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[Expand]1  46,XX,inv(2)(p11q13) inversionfemalefemale3 yrs in 1999 Aqueductal stenosis (hydrocephalus, absent septum pellucidum, dysgenesis of posterior corpus callosum, dolicocehaly, fibrotic, but not entirely closed anterior fontanelleat 19 mos); partial complex seizures; facial dysmorphism: high forehead and prominent occiput, short nose with upturned-nares, epicanthal folds, large mouth, somewhat elongated philtrum and thin upper lip, broad nasal bridge, mild bilateral ptosis; developmental delay; temper tantrums and episodes of head-banging (19 mos). Unassigned
[Expand]2GM11520 46,XY,t(9;16)(p24;q22) balanced translocationmalemale4 mths in 1991 Congenital pulmonary lymphangiectasis, persistent fetal circulation, FTT, gastroesophageal reflux, microcephaly, developmental delay Unassigned
[Expand]3GM02963 46,XY,t(3;17)(p21;q25) t(3;17)(p14.3;q24.3) balanced translocationmalemale3 yrs in 1978 Unusual facies, hirsute, broad hands, gingival hyperplasia Unassigned
[Expand]4GM00972 46,XX,t(4;13)(q32.2;q21.1) balanced translocationfemalefemale13 yrs in 1975 Intrauterine growth retardation, severe mental retardation, failure to thrive, triangular facies, prominent glabella, hypertelorism, epicanthal folds, ptosis, antimongoloid slant, bilateral cataracts, nystagmus, broad flat nose, large low-set ears, widely spaced nipples, clitoromegaly, clinodactyly, short toes & metatarsal 3 &4, II/IV systolic murmur Jenkins EC, Curcuru-Giordano FM, Krishna SG, Cantarella J. De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl. Ann Genet 1975 Jun;18(2):117-20. Unassigned
[Expand]5GM00988 46,XY,t(9;17)(p13;q25) balanced translocationmalemale3 wks in 1975 Facial asymmetry, flattened nose on right side, a high arch with a small opening in the middle of the soft palate, bilateral transverse palmar creases (as seen when subject as a 3 wk-old) Unassigned
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