Deletion (X)(q26. 1[r arrow]q28) in a proband and her mother: Molecular characterization and phenotypic-karyotypic deductions

Journal Article · Mon Mar 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6572889

Tharapel, A T; Simpson, J L; Martens, P R; Wilroy, Jr, R S; Llerena, Jr, J C ^[1]; Anderson, K P; Schwartz, C E ^[2]

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1. Univ. of Tennessee, Memphis (United States)
2. Greenwood Genetics Center, SC (United States)

During a routine pernatal diagnosis the authors 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), the authors 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. They 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 they interpret the deletion in this family as 46,X,del(X)(pter[r arrow]q26::qter). In light of previous phenotypic-karyotypic correlations, it can be deduced that this region contains a locus responsible for ovarian maintenance. 32 refs., 4 figs., 2 tabs.

• OSTI ID: 6572889
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:3; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DNA HYBRIDIZATION
FEMALE GENITALS
FLUORESCENCE
GENETIC MAPPING
GONADS
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
HYBRIDIZATION
LUMINESCENCE
MAPPING
MUTATIONS
ORGANS
OVARIES
PHYSIOLOGY
RFLPS
X CHROMOSOME