Journal article
Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).
- Binkert F Institute of Medical Genetics, University of Zürich, Switzerland.
- Stranzinger J
- Schinzel A
- 1990-01-01
Published in:
- Human heredity. - 1990
Abnormalities, Multiple
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 21
Face
Heart Defects, Congenital
Humans
Infant
Intellectual Disability
Male
Skull
Translocation, Genetic
Trisomy
English
A 1-year-old boy with trisomy 18 (pter----q12) following a paternal balanced translocation revealed microcephaly, a pattern of minor dysmorphic features including upslanting narrow palpebral fissures, receding forehead, large nose and receding mandible, cryptorchidism, flexion contractures of fingers, a cardiac malformation and moderate mental retardation. While pure trisomy 18p generally goes along with a near-normal phenotype, additional trisomy of only a short segment of the proximal long arm 18 has a distinct negative influence on the phenotype, as seen in our proband.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1159/000153910
- PMID 2335369
- Persistent URL
- https://sonar.ch/global/documents/136679
Statistics
Document views: 25
File downloads: