Turner Syndrome Mosaicism 45, X/46, XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case
B Lamanna, M Vinciguerra, M Dellino… - International Journal of …, 2022 - mdpi.com
Turner syndrome (gonadal dysgenesis with short stature and sterility) is characterized by
chromosomal karyotype 45, X in 50% of cases or by mosaicism (45, X/46, XX and 45, X/46 …
chromosomal karyotype 45, X in 50% of cases or by mosaicism (45, X/46, XX and 45, X/46 …
[PDF][PDF] Co-incidence of Turner syndrome and Duchenne muscular dystrophy—An important problem for the clinician
E Kaczorowska, J Zimowski, M Cichon-Kotek… - Dev Period …, 2016 - researchgate.net
Introduction: Turner syndrome is a relatively common chromosomal disorder which affects
about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive …
about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive …
Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome
V Satre, N Monnier, F Devillard, F Amblard… - Prenatal …, 2004 - Wiley Online Library
Objectives We report on a prenatal diagnosis of DMD complicated by a 45, X karyotype that
was revealed only in the chorionic villus long‐term culture. Methods Cytogenetic …
was revealed only in the chorionic villus long‐term culture. Methods Cytogenetic …
A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome
Patients with Turner syndrome are generally characterized by having short stature with no
secondary sexual characteristics. Some abnormalities, such as webbed neck, renal …
secondary sexual characteristics. Some abnormalities, such as webbed neck, renal …
[PDF][PDF] Mosaic turner syndrome with 45, X/46, XY mosaicism and apparent absent uterus
A Alhajjaj, SA Altarouti, F Alkhabbaz - Cureus, 2021 - cureus.com
Turner syndrome (TS) is a relatively common chromosomal abnormality in females. Short
stature, gonadal dysgenesis, and somatic dysmorphic features are the characteristic …
stature, gonadal dysgenesis, and somatic dysmorphic features are the characteristic …
del (X)(p22. 1)/r (X)(p22. 1q28) dynamic mosaicism in a Turner syndrome patient
M Gutiérrez-Angulo, B Lazalde, AI Vasquez, C Leal… - Annales de …, 2002 - Elsevier
We report on a 16-year-old patient with Turner syndrome who presented a mos 46, X, del
(X)(p22. 1)[35]/45, X [19]/46, X, r (X)(p22. 1q28)[6] GTG-band karyotype. The R-banding …
(X)(p22. 1)[35]/45, X [19]/46, X, r (X)(p22. 1q28)[6] GTG-band karyotype. The R-banding …
Pregnancy in a patient with mosaic turner syndrome: a case report
SS Sabzevar, F Mirzaei, MH Tanipour… - Case Reports in …, 2020 - crcp.tums.ac.ir
Turner Syndrome (TS) is a chromosomal sex disorder, phenotypically characterized by short
stature, webbed neck, cubitus valgus, and rarely with slight intellectual disability. A majority …
stature, webbed neck, cubitus valgus, and rarely with slight intellectual disability. A majority …
Familial Turner syndrome with an X; Y translocation mosaicism: implications for genetic counseling
MF Portnoï, S Chantot-Bastaraud… - European Journal of …, 2012 - Elsevier
Spontaneous fertility is rare among patients with Turner syndrome and is most likely in
women with mosaicism for a normal 46, XX cell line. We report an unusual case of familial …
women with mosaicism for a normal 46, XX cell line. We report an unusual case of familial …
Different chromosome Y abnormalities in Turner syndrome.
G Bağci, H Acar, H Tomruk - Genetic Counseling (Geneva …, 2001 - europepmc.org
A 17-year-old phenotypically female girl was referred for evaluation because of short stature
and primary amenorrhea. Cytogenetic analysis showed a mosaic 46, XY/45, X/47, XYY/46 …
and primary amenorrhea. Cytogenetic analysis showed a mosaic 46, XY/45, X/47, XYY/46 …