Results 131 to 140 of about 3,493 (177)

A female pseudohermaphrodite Holstein heifer with gonadal mosaicism

Theriogenology, 2005
An 11-month-old Holstein heifer diagnosed as a female pseudohermaphrodite (PH) was subjected to clinical, hormonal, histological, and cytogenetic examinations. The urogenital sinus and external genitalia of the heifer were virilized and no vulval orifice was present.
Mitsuhiro, Takagi, Norio, Yamagishi, Kenji, Oboshi, Soichi, Kageyama, Hiroki, Hirayama, Akira, Minamihashi, Motoki, Sasaki, Missaka P B, Wijayagunawardane   +7 more
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Gonadal mosaicism in severe Pallister–Hall syndrome

American Journal of Medical Genetics Part A, 2003
AbstractPallister–Hall syndrome (PHS, MIM #146510) is characterized by central and postaxial polydactyly, hypothalamic hamartoma (HH), bifid epiglottis, imperforate anus, renal abnormalities, and pulmonary segmentation anomalies. It is inherited in an autosomal dominant pattern.
David, Ng, Jennifer J, Johnston, Joyce T, Turner, Eilis A, Boudreau, Edythe A, Wiggs, William H, Theodore, Leslie G, Biesecker   +6 more
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Gonadal Dysgenesis Intersex With XO/XY Mosaicism

JAMA, 1964
Individuals with gonadal dysgenesis (Turner's syndrome) have been considered pseudofemales because of the presence of only 45 chromosomes with a single X sex chromosome. Male pseudohermaphrodites usually have 46 chromosomes with an XY sex chromosome pattern. The missing sex chromosome in Turner's syndrome may be either an X or a Y.
R B, GREENBLATT, H, DOMINGUEZ, V B, MAHESH, R, DEMOS   +3 more
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Pathogenetics of 45,X/46,XY gonadal mosaicism

Cytogenetic and Genome Research, 1998
Five patients with 45,X/46,XY mosaicism ranging from 8% to 66% of 46,XY lymphocytes in the peripheral blood were studied. Their age when chromosome studies were performed ranged from a few days to 37 yr. The phenotypic presentations were two females with gonadal dysgenesis and Turner syndrome features (cases 1 and 2), two males with ambiguous genitalia
K S, Reddy, V, Sulcova
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Isolated gonadal sex chromosome mosaicism in primary amenorrhea

American Journal of Obstetrics and Gynecology, 1978
in the right lower quadrant of the abdomen and there Table I. Cytogenetic studies ., was no evidence of malrotation or other congenital anomalies of the gastrointestinal tract. There was no evidence of needle penetration of the abdominal cavity, which might have occurred at the time of amniocen., tesis. This case demonstrates an unusual presentation of
A, Fujimoto, A J, Ebbin, J W, Towner, T N, Chroman   +3 more
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Gonadal mosaicism as a rare cause of autosomal recessive inheritance

Clinical Genetics, 2013
Autosomal recessive diseases are typically caused by the biparental inheritance of familial mutant alleles. Unusual mechanisms by which the recessiveness of a mutant allele is unmasked include uniparental isodisomy and the occurrence of a de novo chromosomal rearrangement that disrupts the other allele.
S, Anazi, E, Al-Sabban, F S, Alkuraya
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An XO/XX mosaic sheep with associated gonadal dysgenesis

Research in Veterinary Science, 1984
A female sheep with an apparent XO/XX karyotype was discovered while screening barren ewes. The animal exhibited a normal phenotype. This is the first reported case of mosaicism associated with gonadal dysgenesis in the sheep.
M S, Baylis, D M, Wayte, J B, Owen
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Multifetal pregnancy in a gonadal dysgenesis mosaic.

Obstetrics and gynecology, 1990
A successful triplet gestation in a 45,X/46,XY woman is presented. A previously hypoplastic uterus was prepared for implantation by exogenous hormone replacement. Conception was achieved through in vitro fertilization of donor oocytes and transfer of four embryos into a hormonally primed endometrium.
A D, Bardeguez, D, De Ziegler, G, Weiss
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Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

Journal of Inherited Metabolic Disease, 1991
SummaryAdrenoleukodystrophy is a severe, X‐linked neurological disease that has been shown to be linked to DNA markers from Xq28. We tested several families with these markers and, in one family, found two apparent recombination events between DXS52 and the disease.
G E, Graham, P M, MacLeod, D P, Lillicrap, P J, Bridge   +3 more
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[Analysis of a case with gonadal mosaicism for COL1A2 variant].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta.Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing.
Haiyan, Zhu, Yuanyuan, Chen, Lili, Wang, Weizhou, Wang, Sheng, He   +4 more
openaire   +1 more source