| 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. | |
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MedLine Citation:
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PMID: 15194959 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a two-year-old girl with 22q13 deletion syndrome (MIM # 606232), 46, XX, de l (22) (q13.31). ish del (22) (q13.31) (TUPLE 1+,ARSA-). The patient has hypotonia, normal growth, severe expressive language delay, mild mental retardation, and minor dysmorphic facial features. In addition, she had central diabetes insipidus that was diagnosed at age two days and resolved at age 27 months. To our knowledge, this association has not been reported previously. Infants with hypotonia, or those suspected to have this syndrome should have high-resolution chromosome analysis and fluorescent in situ hybridization (FISH) studies or molecular analysis, since the chromosomal deletion may be subtle and may go undetected on routine cytogenetic studies. The association of 22q13 deletion syndrome with central diabetes insipidus is reported for the first time. |
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Authors:
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Amin J Barakat; Phillip L Pearl; Maria T Acosta; Beatriz P Runkle |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 13 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2004 Jul |
Date Detail:
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Created Date: 2004-06-14 Completed Date: 2005-01-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 191-4 Citation Subset: IM |
Affiliation:
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Georgetown University Medical Center, Washington, DC, USA. aybarakat@aol.com |
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 22* Diabetes Insipidus / complications, genetics* Facies Female Humans In Situ Hybridization, Fluorescence Language Development Disorders / genetics Mental Retardation / complications, genetics* Syndrome |
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