Results 181 to 190 of about 282,756 (243)

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
openaire   +2 more sources

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency

American Journal of Medical Genetics, 1999
Ornithine transcarbamylase (OTC) deficiency (McKusick 311250), an X-linked inherited disorder, often presents in males with severe neonatal onset of hyperammonemia. Maternal gonadal mosaicism in OTC deficiency was postulated previously, but no cases have been reported.
Bowling, Francis, McGowin, Ivan, McGill, James, Cowley, David, Tuchman, Mendel   +4 more
openaire   +2 more sources

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
openaire   +2 more sources

Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.

Molecular Genetics and Metabolism, 2010
B. Chang, N. Momoi, L. Shan, M. Mitomo, Y. Aoyagi, Kisei Endo, Izumi Takeda, Rui Chen, Y. Xing, Xian-yi Yu, Sayaka Watanabe, Taketoshi Yoshida, H. Kanegane, S. Tsubata, N. Bowles, F. Ichida, T. Miyawaki   +16 more
semanticscholar   +3 more sources

Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome

Clinical Genetics
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disease characterized by developmental delay, intellectual disability, and optic atrophy with a variable expression of other clinical features (dysmorphic features, autistic ...
Nenad Hrvatin, N. Pereza, Tea Čaljkušić-Mance, Tamara Mišljenović Vučerić, S. Ostojić, A. Hodzic, A. Maver, B. Peterlin   +7 more
semanticscholar   +1 more source

Somatic and gonadal mosaicism in Hutchinson–Gilford progeria

American Journal of Medical Genetics Part A, 2005
AbstractWe have studied a patient with Hutchinson–Gilford progeria (HGP). Sequence analysis of the LMNA gene demonstrated the presence of a c.1824 C > T (p.G608G) mutation, activating a cryptic splice donor site and leading to the formation of a truncated Lamin A protein.
Wuyts, W, Biervliet, M, Reyniers, E, D'Apice, MR, NOVELLI, GIUSEPPE, Storm, K.   +5 more
openaire   +5 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Selective advantage of euploid spermatocytes I in an azoospermic 47,XYY man with gonadal mosaicism

Human Reproduction, 2018
Although most XYY men have normal sperm counts and are fertile (supposedly due to the loss of the extra Y before meiosis), there is a minority who are infertile.
R. Sciurano, R. Sciurano, R. Sciurano, I. M. Rahn, I. M. Rahn, B. Arias, G. R. Valzacchi, Ricardo Benavente, Alberto J. Solari, Alberto J. Solari   +9 more
semanticscholar   +1 more source

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
openaire   +2 more sources