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7 Cards in this Set
- Front
- Back
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17p13.3 deletion
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Miller-Dieker
lissencephaly (due to LIS1) mental deficiency, hypotonia, seizures FTT death by 2yo dysmorphic (due to genes other than LIS1) true contiguous gene synd. |
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del(1)(q41q42)
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-new, recognized through array
-DD, seizures -coarse facies, frontal bossing, deep set eyes, broad nasal tip, full lips, cleft palate -growth retard'n in all parameters -club foot (talipes), diaphragmatic hernia, brain malformations -resemble Fryns syndrome -del range 2.7-9Mb, varies considerably |
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del(15)(q13.3)
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-DD
-hypotonia, seizures, EEG abnormalities -hypertelorism, upslanting palpebral fissures, prominent philtrum, everted full lower lip -5th finger brachy/clino -del size - 1.5Mb frequent, other sizes reported -ass'd with inverted* flanking repeats (so not due to NHAR) -ass'd with parental inversion polymorphism -corresponding duplication is a benign polymorphism |
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del(15)(q24)
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-both cytogenetically visible and microscopic dels
-del size varies, critical region: 1.7Mb -to date all submicrosc. pt are males? -DD (in all males) - mild to moder -growth retard'n, growth hormone deficiency, microcephaly -facial asymmetry, 'happy' expression, high anterior hairline, hypertelorism, downslanting palpebral fissures, abnormal ears, long philtrum, full lower lip, -proximal thumbs, brachydactyly, mild cutaneous syndactyly, camptodactyly - genital anomalies,bowel atresia |
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del(16)(p11-12.1)
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-region ass'd with autism/ASD (dels and dups, also seen in normals, but higher freq in ASD)
-larger dels than in ASD reported with more severe pheno -severe DD -hypotonia -postnatal growth delay -flat facies, low-set dysplastic ears, eye abnlts, cleft lip and palate, heart defects, digital anomalies -deletions surrounded by flanking duplications (NAHR mediated) |
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del(17)(q21.31)
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-one of most common novel microdels (1% of MR pt, vs. <0.3% for other new microdels)
-all de novo -DD - mild to moderate -growth delay (pre and postnatal) -severe hypotonia - slow feeding, oromotor dyspraxia, hypotonic facies, scoliosis, pes cavus, etc -long facies, ptosis and blepharophimossis, pear-shaped nose w bulbous tip, hypoplatic alae nasi and long columella, large and low set ears, broad chin, long fingers -amiable, friendly, freq't laughing (similar to angelman) -malformations infrequent -size: 500-600kb, mostly likely due to NAHR -common inversion polymorphism in this region -corresponding dup'n also reported, with more severe phenotype |
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del(2)(p15p16.1)
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-MR - mod to severe, nonverbal; ASD
-postnatal growth retard'n, microcephaly -brachycephaly, flattened occiput, bitemporal narrowing, telecanthus, strabismus, potosis, shortened palpebral fissures, prominent nasal bridge and tip, everted lower lips -optic nerve hypoplasia - |
