A paternally derived inverted duplication of 7q with evidence of a telomeric deletion

Autor:	Lawrence L. Charity, Alan F. Scott, Eva K. Pressman, Cindy L. Berman, Gail Stetten, Laura Kasch, Karin J. Blakemore
Rok vydání:	1997
Předmět:	Genetics Chromosome 7 (human) congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Cytogenetics Chromosome Karyotype Biology Phenotype Gene duplication otorhinolaryngologic diseases medicine medicine.symptom Genetics (clinical) Low-set ears Chromosomal inversion
Zdroj:	American Journal of Medical Genetics. 68:76-81
ISSN:	0148-7299
DOI:	10.1002/(sici)1096-8628(19970110)68:1<76::aid-ajmg15>3.0.co;2-l
Popis:	We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.
Databáze:	OpenAIRE
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