| Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome. | |
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MedLine Citation:
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PMID: 17163546 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In recent years, subtelomeric rearrangements have been identified as a major cause of multiple congenital anomalies (MCA)/mental retardation (MR) syndromes. Currently, more than 2,500 individuals with MR have been tested and subtelomeric rearrangements were detected in about 6%. Therefore, subtelomeric FISH analysis is indicated as a second tier test after high-resolution G-banding analysis, in subjects with otherwise unexplained developmental delay/MR and/or MCA. We describe a female patient and her maternal aunt, both showing a distinct phenotype, associated with the same complex subtelomeric rearrangement. Subtelomeric FISH testing performed between 1 year 9 months and 20 years after the initial karyotype showed, in both patients, distal trisomy 12p and distal monosomy 10p as follows: 46,XX.ish der(10)t(10;12)(p15.3;p13.31). Parental subtelomeric FISH analysis showed the proposita's mother (sister of Patient 2) and grandmother (mother to Patient 2), to have a balanced 10p:12p translocation. Both girls showed a similar phenotype with pre/postnatal growth retardation, moderate-to-severe developmental delay/MR, very poor/absent speech, hypotonia, lax ligaments, and a distinct pattern of malformation. On examination there were blepharophimosis; bilateral ptosis/epicanthus; broad, depressed nasal bridge with a beaked nose; short philtrum; low-set, posteriorly rotated, overfolded ears; micrognathia; mild webbing of the neck; mild broadening of thumbs; puffy hands/feet; long hallux; and sacral/coccygeal dimples. A slow overall improvement was seen in both patients over time. To our knowledge, a complex subtle rearrangement as the one seen in our patients has not been reported thus far. Our patients show features of partial 10p deletion syndrome rather than those of partial duplication 12p, confirming the general rule that deletions are more phenotypically penetrant than duplications. |
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Authors:
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A Battaglia; A Novelli; C Ceccarini; L Bernardini; J C Carey |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 143 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2007 Jan |
Date Detail:
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Created Date: 2006-12-27 Completed Date: 2007-03-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 184-8 Citation Subset: IM |
Copyright Information:
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(c) 2006 Wiley-Liss, Inc |
Affiliation:
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Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone (Pisa), Italy. abattaglia@inpe.unipi.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child, Preschool Chromosome Aberrations* Chromosomes, Human, Pair 10 / genetics* Chromosomes, Human, Pair 12 / genetics* Craniofacial Abnormalities / genetics*, pathology Female Foot / pathology Humans Mental Retardation / genetics*, pathology Monosomy / diagnosis, genetics Pedigree Syndrome Telomere / genetics* Trisomy / diagnosis, genetics |
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