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10.1002/ajmg.1320470124.abs The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL‐H syndrome. There have been recent reports of sporadic patients with VACTERL‐H in whom high rates of...
10.1002/ajmg.1320470106.abs “Epidermal nevus syndrome” (“ENS”) is a neurocutaneous disorder in which epidermal nevi are associated with other abnormalities, most commonly of the skeletal and central nervous systems. We present two cases of epidermal nevus syndrome (ENS) with very...
10.1002/ajmg.1320470109.abs We present a girl with a mos45,X, −21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2) chromosome constitution. The ratio of these cells was 59/26 in phytohemagglutinin (PHA)‐ stimulated lymphocytes. The 45,X,der(21) t(Xp–;21p+) cells lacked an X...
10.1002/ajmg.1320470107.abs We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia,...
10.1002/ajmg.1320470116.abs The phenotypes of hemifacial microsomia‐VATER, VATER, and sirenomelia patients suggest a sequence of overlapping developmental abnormalities. The malformations of 247 hemifacial microsomia (HFM) patients with one or more anomalies in other body regions were analyzed...
10.1002/ajmg.1320470111.abs We report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post‐axial hexadactyly, and genital abnormalities, but a Dandy‐Walker malformation rather an occipital meningocele. Progressive deterioration of renal...
10.1002/ajmg.1320470120.abs We report on a 7‐year‐old boy with microcephaly, bitemporal hollowig, low sloping forehead, slightly prominent occiput, widely set eyes, broad and prominent nasal bridge, and severe postnatal growth deficiency. Hypertonia, hyperreflexia, seizures, and profound...
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