| A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation? | |
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MedLine Citation:
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PMID: 20681219 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A newborn male presented with intestinal malrotation, facial anomalies, hypertrichosis, hypertrophic, hyperpigmented nipples and enlarged genitals with a hyperpigmented scrotum. In addition, the patient displayed a marked lipodystrophy of trunk and limbs. His karyotype demonstrated a small supernumerary NOR-positive marker chromosome that was subsequently identified as del(22)(q12->qter). This extra structurally abnormal chromosome probably derives from a maternal balanced translocation, which was found by karyotype analysis of the mother. The patient's growth hormone (GH) serum levels were elevated, whereas serum insulin-like growth factor 1 (IGF-I) was almost undetectable. Molecular genetic analysis of the IGF-I and type 1 IGF receptor (IGF-IR) genes revealed a heterozygous mutation within exon 21 of the IGF-IR (Pro1257Ser). Findings in our patient correlate to a large extent with partial trisomy 22. Phenotypic variation from classical partial trisomy 22 syndrome may lie within the variability of this syndrome, originate from disturbances within the GH-IGF/IGF-IR axis or, alternatively, reflect the pathogenesis of a new syndrome due to the synergistical impact of the combination of the genetic aberrations. Additional studies are necessary to confirm or refute this hypothesis. |
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Authors:
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A O Caglayan; J Klammt; W Kiess; N Hatipoglu; R Pfäffle; S Kurtoglu; C Saatci; M Dundar |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 21 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-08-04 Completed Date: 2010-09-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 187-97 Citation Subset: IM |
Affiliation:
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Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey. okaycaglayan@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Chromosomes, Human, Pair 22* Humans Infant, Newborn Lipodystrophy / genetics* Male Mutation* Receptor, IGF Type 1 / genetics* Syndrome Trisomy* |
| Chemical | |
Reg. No./Substance:
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EC 2.7.10.1/Receptor, IGF Type 1 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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