Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p
This is a case report of a 16‐year‐old Arab girl with mental subnormality, shortness of stature and multiple minor phenotypic anomalies. She is obese with normal secondary sexual characteristics, and has a speech deficit. Cytogenetic studies showed a 46,XX,dir ins (18;3)(p11.1;q13.2→q25). The chromo...
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Veröffentlicht in: | American Journal of Medical Genetics 1995-03, Vol.56 (1), p.35-38 |
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Format: | Artikel |
Sprache: | eng |
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