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Triple A syndrome is a rare, autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Previous studies have shown that the triple A gene (AAAS) maps to chromosomal band 12q13. Mutations in the AAAS gene have been identified in triple A syndrome patients;...
We describe a female neonate with a unique constellation of features including anophthalmia and cryptophthalmos, temporal remnant “eye tags,” bilateral cleft lip, unilateral cleft palate, a proboscis with absent nasal septum, choanal atresia, micrognathia, square stoma, and bilateral external...
In 1672, François Bouchard reported the autopsy of a male infant discovered on public exhibition at Leiden. The findings of tetraphocomelia more severe in the upper limbs with reduction in the number and length of digits, hydrocephalus, bilateral cleft lip, micrognathia, and cryptorchidism are...
Three de novo short‐arm duplications of chromosome 9 were investigated by fluorescence in situ hybridization (FISH) and genotyping of microsatellite loci with the aim of disclosing their mechanisms of origin. Two of these duplications were identified as direct and one as an inverted...
We describe 23 cases with a syndrome of congenital contractures belonging to a large, inbred Israeli‐Bedouin kindred. The phenotype described is similar to the Finnish type lethal congenital contracture syndrome yet differs in the following ways: by some additional craniofacial/ocular findings,...
Fragile X syndrome is the most common cause of inherited developmental disability. The purpose of the present study is to understand how both biological and environmental influences affect the development of adaptive behavior in children with fragile X. In‐home assessments were conducted on 120...
We report the first case of an individual with a de novo interstitial tandem duplication of the short arm of chromosome 20p12.1p13, discuss the clinical features, and propose the possible underlying mechanism of formation. © 2002 Wiley‐Liss, Inc.
Pontocerebellar hypoplasia (PCH) is rarely associated with anterior horn cell disease and designated as PCH‐1. This phenotype is characterized by severe muscle weakness and hypotonia starting prenatally or at birth with a life span not exceeding a few months in most cases. Milder disease...
Two cases of submicroscopic recombinants of intrachromosomal transposition of telomeres, one each from chromosome 1 and 2 are described. Meiotic crossing‐over would generate the recombinants from these reciprocal rearrangements. In both cases, which were detected by FISH with subtelomeric...
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