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We describe three siblings with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The parents are not consanguineous and there are no other affected relatives. This new syndrome, which follows an...
We report on a rare additional numerical chromosomal aberration in a child with Down syndrome due to free trisomy 21. The karyotype showed 48,XY,+21,+mar after GTG banding, with the marker present in 80% of cells. The supernumerary marker chromosome (SMC) was as small as approximately one‐third...
Pallister–Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only. Here, we report on an unusual...
We studied two children with combined genetic skeletal disorders. Both had Leri‐Weill dyschondrosteosis (LWD); one also had achondroplasia and the other had hypochondroplasia. Both had severe short stature and evidence of rhizomelia and mesomelia as well as other phenotypic features of their...
In 1996, Wittwer et al. described a XLMR‐syndrome mapping in Xp22.3. This family was reexamined. The spectrum of clinical symptoms now includes progressive skeletal lesions with osteoplastic and osteoclastic changes. Haplotype analysis using 23 microsatellite markers on Xp22 localized the...
Gaucher disease, a common lysosomal storage disorder, is associated with mutations at the acid β‐glucosidase (GCase) locus. Two affected individuals are described to share a common mutant allele, but manifest different clinical categorical phenotypes. A 57‐year‐old female, with Gaucher...
Premature ovarian failure (POF) and underlying hormonal changes are recognized as a distinct phenotype in female fragile‐X premutation carriers. Neurocognitive deficits, in particular mental retardation, are associated with the full mutation in males and females. In female full mutation...
We report the unusual finding of velocardiofacial syndrome (VCF) in an unexplained 46,XX male. A microdeletion of 22q11.2 was confirmed by fluorescence in situ hybridization (FISH) analysis. Routine G‐banded chromosome analysis revealed an XX sex chromosome constitution. FISH was performed...
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