Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.
| Autoři: | Tharapel AT; Department of Pediatrics, University of Tennessee, Memphis 38163., Anderson KP, Simpson JL, Martens PR, Wilroy RS Jr, Llerena JC Jr, Schwartz CE |
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| Zdroj: | American journal of human genetics [Am J Hum Genet] 1993 Mar; Vol. 52 (3), pp. 463-71. |
| Způsob vydávání: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| Jazyk: | English |
| Informace o časopise: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2008- : [Cambridge, MA] : Cell Press Original Publication: Baltimore, American Society of Human Genetics. |
| Výrazy ze slovníku MeSH: | Chromosome Deletion* , Polymorphism, Restriction Fragment Length* , X Chromosome*, Adult ; Amniocentesis ; Blotting, Southern ; Child ; Chromosome Banding ; DNA Probes ; Female ; Fetus/physiology ; Homozygote ; Humans ; In Situ Hybridization ; Karyotyping ; Male ; Phenotype ; Pregnancy ; Primary Ovarian Insufficiency/genetics ; Restriction Mapping ; Telomere/ultrastructure |
| Abstrakt: | During a routine prenatal diagnosis we detected a female fetus with an apparent terminal deletion of an X chromosome with a karyotype 46,X,del(X)(q25); the mother, who later underwent premature ovarian failure, had the same Xq deletion. To further delineate this familial X deletion and to determine whether the deletion was truly terminal or, rather, interstitial (retaining a portion of the terminal Xq28), we used a combination of fluorescence in situ hybridization (FISH) and Southern analyses. RFLP analyses and dosage estimation by densitometry were performed with a panel of nine probes (DXS3, DXS17, DXS11, DXS42, DXS86, DXS144E, DXS105, DXS304, and DXS52) that span the region Xq21 to subtelomeric Xq28. We detected a deletion involving the five probes spanning Xq26-Xq28. FISH with a cosmid probe (CLH 128) that defined Xq28 provided further evidence of a deletion in that region. Analysis with the X chromosome-specific cocktail probes spanning Xpter-qter showed hybridization signal all along the abnormal X, excluding the possibility of a cryptic translocation. However, sequential FISH with the X alpha-satellite probe DXZ1 and a probe for total human telomeres showed the presence of telomeres on both the normal and deleted X chromosomes. From the molecular and FISH analyses we interpret the deletion in this family as 46,X,del(X) (pter-->q26::qter). In light of previous phenotypic-karyotypic correlations, it can be deduced that this region contains a locus responsible for ovarian maintenance. |
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| Grant Information: | MCJ-131002 United States PHS HHS |
| Substance Nomenclature: | 0 (DNA Probes) |
| Entry Date(s): | Date Created: 19930301 Date Completed: 19930408 Latest Revision: 20200824 |
| Update Code: | 20221213 |
| PubMed Central ID: | PMC1682144 |
| PMID: | 8095365 |
| Autor: | Tharapel AT; Department of Pediatrics, University of Tennessee, Memphis 38163., Anderson KP, Simpson JL, Martens PR, Wilroy RS Jr, Llerena JC Jr, Schwartz CE |
| Jazyk: | angličtina |
| Zdroj: | American journal of human genetics [Am J Hum Genet] 1993 Mar; Vol. 52 (3), pp. 463-71. |
| Abstrakt: | During a routine prenatal diagnosis we detected a female fetus with an apparent terminal deletion of an X chromosome with a karyotype 46,X,del(X)(q25); the mother, who later underwent premature ovarian failure, had the same Xq deletion. To further delineate this familial X deletion and to determine whether the deletion was truly terminal or, rather, interstitial (retaining a portion of the terminal Xq28), we used a combination of fluorescence in situ hybridization (FISH) and Southern analyses. RFLP analyses and dosage estimation by densitometry were performed with a panel of nine probes (DXS3, DXS17, DXS11, DXS42, DXS86, DXS144E, DXS105, DXS304, and DXS52) that span the region Xq21 to subtelomeric Xq28. We detected a deletion involving the five probes spanning Xq26-Xq28. FISH with a cosmid probe (CLH 128) that defined Xq28 provided further evidence of a deletion in that region. Analysis with the X chromosome-specific cocktail probes spanning Xpter-qter showed hybridization signal all along the abnormal X, excluding the possibility of a cryptic translocation. However, sequential FISH with the X alpha-satellite probe DXZ1 and a probe for total human telomeres showed the presence of telomeres on both the normal and deleted X chromosomes. From the molecular and FISH analyses we interpret the deletion in this family as 46,X,del(X) (pter-->q26::qter). In light of previous phenotypic-karyotypic correlations, it can be deduced that this region contains a locus responsible for ovarian maintenance. |
| Databáze: | MEDLINE |
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