Partial trisomy 10q syndrome: Report of a case with new findings
β Scribed by Waldemar A. Palutke; John V. Hartline; Donald Schaefer; Norma R. Gohle
- Book ID
- 118887537
- Publisher
- Elsevier Science
- Year
- 1981
- Tongue
- English
- Weight
- 437 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0020-7292
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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
We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified