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10.1002/ajmg.1320560124.abs We report on an unselected group of 24 children with small supernumerary marker i chromosomes, found in a large sample of 34,910 consecutive newborns karyotyped at I birth. Sixteen of these were available for re‐examination. With the use of in situ hybridization with...
10.1002/ajmg.1320560103.abs We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. These manifestations were similar to those seen in Lowry‐Wood syndrome (LWS). He also had...
10.1002/ajmg.1320560121.abs Deletions of 22qll cause DiGeorge sequence (DGS), velo‐cardio‐facial syndrome (VCFS), conotruncal anomaly face syndrome, and some isolated conotruncal heart anomalies. Demonstration of a 22qll deletion in a patient with manifestations of DGS and Noonan syndrome...
10.1002/ajmg.1320560123.abs In a series of 18 individuals comprising parents of Angelman syndrome (AS) patients and AS patients with large deletions, mi‐crodeletions, and no deletions, we utilized fluorescence in situ hybridization (FISH) with genomic phage clones for loci D15S63 and GABRB3 for...
10.1002/ajmg.1320560112.abs We review 43 patients (15 new, 28 literature) with the branchio‐oculo‐facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial anomalies. Virtually ubiquitous and possibly...
10.1002/ajmg.1320560114.abs We report on two unrelated male infants with similar findings of communicating hy‐drocephalus, endocardial fibroelastosis (EFE) and congenital cataracts, who died at 4 months of age. Both mothers reported an upper respiratory infection during the first trimester of...
10.1002/ajmg.1320560120.abs We report on a father and son with a previously undescribed skeletal abnormality and severe short stature. Antenatal sonographic evaluation of the propositus (son), obtained due to maternal pre‐eclampsia, suggested an abnormal spine. At birth, no congenital anomalies...
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