A New Case of Pure Partial 7q Duplication
โ Scribed by Alfonsi, M.; Palka, C.; Morizio, E.; Gatta, V.; Franchi, S.; Guanciali Franchi, P.; Zori, R.; Calabrese, G.; Palka, G.; Chiarelli, F.
- Book ID
- 121003392
- Publisher
- S. Karger AG
- Year
- 2012
- Tongue
- French
- Weight
- 336 KB
- Volume
- 136
- Category
- Article
- ISSN
- 1424-8581
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract We report on two new cases with a pure partial trisomy of the long arm of chromosome 7. Patient 1 was a female who showed cleft palate with retrognathia, cardiomyopathy, and pulmonary hypertension. Patient 2 was a male who showed microretrognathia, cleft palate, micropenis, camptodactyl
Partial trisomy 15 was observed in a newborn with malformations of the head and extremities. A t(5;15) translocation was found in the mother and maternal grandfather.
We report on a female infant with partial 6q trisomy (46,XX,dir dup(6)(q23.3q25.3)) and phenotypic characteristics of the "duplication 6q syndrome," including intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion-contractures o