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Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2008 Nov 15; Vol. 146A (22), pp. 2937-43. - Publication Year :
- 2008
-
Abstract
- Here we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities. We present the clinical details of this patient's presentation, the skeletal findings, and provide characterization of the deletion at the molecular level. We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region.<br /> ((c) 2008 Wiley-Liss, Inc.)
- Subjects :
- Abnormalities, Multiple pathology
Craniofacial Abnormalities genetics
Craniofacial Abnormalities pathology
Female
Humans
Intellectual Disability genetics
Phenotype
Syndrome
Young Adult
Abnormalities, Multiple genetics
Bone and Bones abnormalities
Chromosome Deletion
Chromosomes, Human, Pair 1 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 146A
- Issue :
- 22
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 18925675
- Full Text :
- https://doi.org/10.1002/ajmg.a.32550