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
Hauptverfasser: Al-Attia, Haider M., Sedaghatian, Mohamed R.
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Sprache:eng
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