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Exclusively paternal X chromosomes in a girl with short stature

✍ Scribed by Albert A. Schinzel; Wendy P. Robinson; Franz Binkert; Toni Torresani; Edmond A. Werder


Publisher
Springer
Year
1993
Tongue
English
Weight
410 KB
Volume
92
Category
Article
ISSN
0340-6717

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A recombinant X chromosome in a short st
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A 7 3/4-year-old girl with short stature was found to have a recombinant (X),dup q chromosome resulting from an apparently unique pericentric inversion (X)(p11.2q26) present in her mother and maternal grandmother. The recombinant X chromosome was shown to be late replicating and the inversion X chro

Brachydactyly type A-4 (Temtamy type) wi
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## Abstract We report on a Japanese girl and her mother with brachydactyly. Their 2nd and 5th middle phalanges were short and the latter was fused with the distal phalanx in one of the patients. Length and shape of proximal and distal phalanges as well as metacarpals seemed normal. These findings a