Pediatrics

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abducens palsy

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a paralysis of the sixth cranial nerve

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ascentric chromosome

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a chromosome that possesses no centromere for spindle fibre attachment

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achondroplasia

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one of the more common forms of dwarfism

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acrocentrism chromosome

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a chromosome in which the centromere is close to one end of the chromosome

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allele

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a gene situated at a particular locus on a particular chromosome may exist in more than one form; the different forms of a particular gene are called alleles of that gene. different alleles of the same gene produce different effects during development

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anencephaly

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a form of spinal bifida in which the brain fails to develop

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anenploidy

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the occurrence of a chromosome number different from the usual number and not an exact multiple of the haploid number

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ankylosis

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stiffening of a joint

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anosmia

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the inability to smell

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arthropathy

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a disease involving joints

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association

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the occurrence of two or more genetic traits together in the same individual. association may be due to two linked genes, multiple effects of the same gene or to the random association of two nonlinked genes in the same individual

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ataxia

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loss of coordinated muscle movement

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atresia

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severe underdevelopment of an opening or passage resulting in pathologic closure

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autosomal linkage

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the linkage of two or more genes on an autosome

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autosome

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any chromosome that is not a sex chromosome

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banding

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the technique of staining chromosomes in a characteristic pattern of cross bands, thus allowing individual identification of each chromosome pair (G and Q banding)

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brachycephaly

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shortness of the anterior to posterior diameter of the skull

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brachydactyly

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shortness of fingers

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brushfield spots

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the hypopigmented spots that can be seen in the irides of certain individuals with down syndrome

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canthus

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the corner of the eye slit

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duplication

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the occurrence of a chromosomal segment in duplicate, resulting fro. chromosome breakage and reunion from chromosome breakage and reunion of noncorresponding ends

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dysmorphic

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abnormality of form or shape

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dysplasia

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abnormal development of tissue

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ectodermal

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those parts of the body derived from the outer layer d calls in an embryo

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ectrodactyly

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congential absence if one ot kore digits of the hands or feet

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epicanthal folds

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folds of skin sometimes seen on the inner aspect of the palpebral fissure and that overlap the inner canthus. commonly seen in the Asian population and as a feature of certain syndromes

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exophthalmos

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abnormal protrusion of the eyeballs

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exostosis

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a bony tumor/protuberance on the surface of a bone

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expressivity

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the degree of severity of expression of a gene in a particular individual

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familial

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the situation where several individuals in a family express certain attributes but it is not linked to genes

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fibroblast

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a connective tissue cell (ie skin)

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fistula

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a sinus or passage leading from one organ to another

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mitosis

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a form of nuclear division in which each chromosome splits lengthwise and is divided into two daughter cells

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mosaic

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an organism that displays phenotypic or phenotypic variation from cell to cell within the same tissue or genotypic variation between tissues

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mutation

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a change of a gene from one allelic form to another.

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nephritis

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inflammation of the kidneys

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neurofibroma

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a benign neoplasm derived from nerve fibres

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nevus

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an a4ea of discoloured skin that is due either to hyperpigmentation or hyperplasia of blood vessels

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oligodactyly

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the presence of fewer than five digits on any one extremity

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organomegaly

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enlargement of the liver or spleen

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palpebral fissure

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the slits of the eye formed by the upper and lower eyelids

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patent ductus arteriosus

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failure of the ductus anteriosus to constrict. the DA connects the pulmonary artery to the aorta in fetal life

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pedigree

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diagram of a family tree, showing the occurrence of one or more traits in different members of a family. the analysis of patterns of heredity is facilitated by the study of pedigrees

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retinitis pigmentosa

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hereditary condition of the retina characterized by inflammation and pigmentary infiltration of the retina

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scheibe aplasia

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this most common form of inner ear aplasia is characterized by exclusive involvement of the membranous portion of the cochlea. specific features include atrophy of the stria vascularis, a rolling up if the tectorial membrane and degeneration of the OoC

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sclera

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the white part of the eye

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spondylitis

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inflammation of the vertebral bodies

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stenosis

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a narrowing of a canal or opening

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strabismus

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squinting or deviation of the eyes from a parallel axis

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synchondrosis

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a joining of teo bines by cartilaginous material

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syncope

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fainting

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syndactyly

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persistent soft tissue between the fingers or toes (webbing)

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trait

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a characteristic manifested in the phenotype of an individual

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translocation

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the transfer of a segment of one chromosome to another. the translocation is reciprocal when there is mutal exchange of part of a chromosome arm with that of another

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trisomy

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the addition of an otherwise normal diploid complement of a member of a particular chromosome pair

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centromere

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the constricted region of a chromosome where spindle fibers attach during cell division

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chromosome

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structural elements of various sizes found in the nucleus of a cell and containing the major part of the hereditary material

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clinodactyly

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abnormal incurving of the fingers

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coloboma

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clefting defect of the eye which may involve iris, choroid, or retinal structures

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condyle

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the rounded articular surface of a bone

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congential

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present at birth

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consanguinous union

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union between biologically related individuals

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craniosynostosis

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premature fusion of the cranial sutures

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cryptorchidism

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undescended testes

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cutis marmorata

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a marbled appearance of the skim usually due to an abnormality in vascular structure

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cytogenetics

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a branch of genetics dealing with the cytological basis of heredity

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cytomegalic inclusion disease

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significant problems that are the result of cytomegalovirus infection in utero.

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deletion

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the loss of a segment of a chromosome

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diploid

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possessing a double set of chromosomes, one set of which was derived from the mother and one from the father

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dizygotic twins

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twins resulting from the fertilization of two ova by two spermatozoa

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DNA

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The main chemical component of the genetic material in chromosomes

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dominant gene

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a gene that expresses its effect even when it is present only in single doses

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heterochroma irides

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different colours of the iris

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heterozygote

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one who posses two different alleles of a gene at a particular locus on a pair of homologous chromosomes

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hirsutism

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excessive facial or body hair

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inguinal hernia

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protrusion of intestine through the abdominal wall in the groin area

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homozygous

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an individual with two of the same allele

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homozygous

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possessing identical alleles of a gene

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kyphoscoliosis

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a convex backward curvature of the spine in association with scoliosis

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hyperplasia

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increase in the size of a body tissue as a result of an increase in cell number

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hypertelorism

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increased distance between the eyes

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hypertrophy

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overgrowth of a tissue or organ usually due to an increase in cell size but not number

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hypodontia

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less than the expected number of teeth

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hypoplasia

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incomplete or underdevelopment of a tissue or organ

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hypospadias

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a defect of the wall of the urethra

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locus

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the precise position of a particular gene on a chromosome

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lymphodema

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a swelling caused by the accumulation of lymph

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maxilla

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upper jaw bone

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meiosis

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cell division for gamete formation

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penetrance

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when a gene shows an effect in the phenotype

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periventricular calcification

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usually seen as tiny nodules in the brain substance close to the ventricular system, commonly as a secondary consequence of congential infections

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polydactyly

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extra digits

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polyneuritis

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inflammation of multiple nerves

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polyploidy

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the occurrence of an abnormal number of chromosomes which is an exact multiple of the haploid number

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propositus

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an affected individual through whom a family is first brought to the attention of the investigator

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ptosis

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sloppiness of the upper eyelid

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Q-T interval

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an electrocardiographic term used to denote the distance between the QRS complex and the T wave

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recessive gene

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a gene that is unable to express itself in a heterozygous state

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renal dysplasia

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abnormal devwlopmwnr of the kidney or UT

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ventricular septal defect

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failure of complete development kf the intraventricular septum

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vitiligo

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pale oatxhes of skin due to loss of pigment

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X chromosome

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a sex chromosome that normally occurs singly in males and duplicity in females

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X linkage

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linkage due to the presence of a gene in the X chromosome

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Y chromosome

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a sex chromosome that normally occurs singly in the male

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zygoma

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the facial bones in the area of the temple

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zygosity

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the number of zygotes from which a set of twins or higher multiple births has results

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zygote

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a cell formed by the fusion of male and female gametes