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Trisomy 22: no longer an enigma
- Source :
- American journal of medical genetics. 34(4)
- Publication Year :
- 1989
-
Abstract
- We describe a live-born male with 47,XY,+22. He had multiple congenital anomalies, severe growth retardation and psychomotor delay. Physical manifestations included broad nasal bridge, epicanthic folds, micrognathia, long philtrum, cleft palate, microcephaly with prominent occiput, apparently low-set malformed ears, heart murmur, genital anomaly, clinodactyly of the fifth fingers, and a low total finger ridge count. He died just before his 3rd birthday. Chromosome analysis by multiple banding techniques based on lymphocyte and fibroblast cultures confirm that the boy had complete trisomy 22.
- Subjects :
- Male
medicine.medical_specialty
Microcephaly
Clinodactyly
Chromosomes, Human, Pair 22
Aneuploidy
Trisomy
Biology
Trisomy 22
Internal medicine
medicine
Humans
Abnormalities, Multiple
Genetics (clinical)
Cells, Cultured
Psychomotor retardation
Prominent occiput
Long philtrum
Infant, Newborn
Anatomy
medicine.disease
Chromosome Banding
Endocrinology
Phenotype
Karyotyping
medicine.symptom
Subjects
Details
- ISSN :
- 01487299
- Volume :
- 34
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics
- Accession number :
- edsair.doi.dedup.....992ccbcfa77ec022df6ad3d75aa1c3ee