Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

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 pa...

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Published inAmerican journal of medical genetics. Part A Vol. 146A; no. 22; pp. 2937 - 2943
Main Authors Descartes, Maria, Hain, Julie Zenger, Conklin, Michael, Franklin, Judy, Mikhail, Fady M., Lachman, Ralph S., Nolet, Serge, Messiaen, Ludwine M.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.11.2008
Wiley-Liss
Subjects
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Biological and medical sciences
Bone and Bones - abnormalities
Chromosome Deletion
Chromosomes, Human, Pair 1 - genetics
Classical genetics, quantitative genetics, hybrids
Craniofacial Abnormalities - genetics
Craniofacial Abnormalities - pathology
critical region
Female
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
Intellectual Disability - genetics
interstitial 1q deletion
Medical genetics
Medical sciences
multiple congenital anomalies
Phenotype
skeletal findings
Syndrome
Young Adult
Chromosomal aberration
Genetic mapping
Human
multiple congenital anomalies
Multiple
interstitial 1q deletion
Chromosome A1
Critical region
Patient
Congenital anomaly
skeletal findings
Characterization
Malformation
Deletion
Interstitial
Bone
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Summary: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. © 2008 Wiley‐Liss, Inc.
Bibliography:How to cite this article: Descartes M, Zenger Hain J, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM. 2008. Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities. Am J Med Genet Part A.
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32550