Molecular Pathology

Front 1

(4p–).
“Greek helmet” facies (ocular hypertelorism, prominent glabella, and frontal bossing).
microcephaly, dolichocephaly, a hypoplastic eye socket, bilateral epicanthic folds, cleft lip and palate, a beaked nose, hypospadias, cardiac malformations, and mental retardation.

Back 1

Wolf-Hirschhorn Syndrome (4p–)

Front 2

(5p–).
A characteristic cry gives the syndrome its name. hypotonia, small stature, microcephaly, moonlike face, hypertelorism, bilateral epicanthic folds, a high arched palate, wide and flat nasal bridge, and mental retardation.

Back 2

Cri-du-Chat Syndrome (5p–)

Front 3

22q11.2
Thymic aplasia/hypoplasia (immunodeficiency), parathyroid aplasia/hypoplasia (hypocalcemia, tetany), abnormal facial features, mental retardation, conotruncal cardiac anomalies

Back 3

DiGeorge, Catch 22, velo-cardio-facial

Front 4

11p13
Wilms tumor, aniridia, genital hypoplasia (in males), gonadoblastoma, mental retardation

Back 4

WAGR

Front 5

20p12
Bile duct paucity, heart defects (pulmonary artery stenosis), ocular defects (posterior embryotoxin), butterfly vertebrae, long nose with broad midnose

Back 5

Alagille

Front 6

Xp22.3
Anosmia, hypogonadism

Back 6

Kallman

Front 7

15q11.2 (paternal)
Hyperphagia, obesity, hypogonadism, mild mental retardation

Back 7

Prader-Willi

Front 8

15q11.2 (maternal)
Hyperactivity, inappropriate laughter, aphasia, ataxia, mental retardation, seizures

Back 8

Angelman

Front 9

17p11.2
moderate mental retardation, prominent forehead, prognathism, maladaptive and self-mutilating behavior, disturbed sleep

Back 9

Smith-Magenis

Front 10

7q11.23
elfin face, abnormal dentation, stellate pattern in iris, growth deficiency, heart malformations, infantile hypercalcemia, mental retardation, very friendly personality

Back 10

Williams

Front 11

4p deletion
Intrauterine growth retardation, heart malformations, microcephaly, cleft lip and palate, broad nasal root, severe mental retardation

Back 11

Wolf- Hirschhorn
"Greek helmet" facies

Front 12

17p13
microcephaly, lissencephaly, mental retardiation, heart malformations, renal malformations, seizures, prominent forehead, vertical furrowing of brow

Back 12

Miller-Dieker

Front 13

22q11.2
colomba, heart malformations, choanal atresia, genital hypoplasia, deafness, mental retardation

Back 13

CHARGE sequence