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Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)

✍ Scribed by L�ffler, Judith; Utermann, Barbara; Duba, Hans C.; Mayr, Udo; Utermann, Gerd; Erdel, Martin

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 40 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000410)91:4<291::aid-ajmg10>3.0.co;2-3

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✦ Synopsis

We present two brothers with mental retardation, seizures disorder, generalized muscular hypertonia, kyphoscoliosis, minor anomalies and a prominent midface. GTG-banded chromosome analysis showed a derivative chromosome 14 without clues toward the origin of the rearrangement. Microdissection of the derivative chromosome 14 and subsequent reverse painting demonstrated partial trisomy 7q32-q34 as the unbalanced product of a maternal insertion (14;7). Thus, we identified two cases with pure trisomy 7q32-q34 that allowed further delineation of this aneusomy syndrome.

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