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4p- syndrome in a girl with translocation t(1;4)(q11;p16)mat

✍ Scribed by Claude Stoll; A. Pennerath; Ch. Lausecker

Publisher
Springer
Year
1981
Tongue
English
Weight
208 KB
Volume
56
Category
Article
ISSN
0340-6717

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## Abstract We report on a 13‐year‐old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y c

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More than 70 patients with Jacobsen syndrome have been described [Penny et al., 1995;Pivnick et al., 1996;Ono et al., 1996]. The Jacobsen syndrome comprises mild to moderate psychomotor retardation, trigonocephaly, minor facial anomalies, cardiac defects, and thrombocytopenia. The syndrome is caused