ISSN:
1432-1076
Schlagwort(e):
Robinow syndrome
;
Autosomal recessive occurrence
;
Chromosomal abnormalities
;
Y chromosome
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF01957728
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