Basic genetics and patterns of inheritance
DK Grange - Clinical Maternal-Fetal Medicine, 2021 - taylorfrancis.com
… Newer molecular cytogenetic methods have revolutionized the … There may be portions of a
Y chromosome present or mosaicism … carriers of paracentric and pericentric inversions have …
Y chromosome present or mosaicism … carriers of paracentric and pericentric inversions have …
Internship in Laboratorial Clinical Genetics
JSM Silva - 2022 - estudogeral.uc.pt
… of an abnormal Y chromosome present in 19 metaphases … , like male infertility, ambiguous
genitalia, etc. It will depend on … a normal Y chromosome, that wasn’t detected by cytogenetics. …
genitalia, etc. It will depend on … a normal Y chromosome, that wasn’t detected by cytogenetics. …
[PDF][PDF] The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes
… Banding and molecular cytogenetics for dynamic mosaicism … biased since 73% of familial
patients with a maternal carrier … from an X chromosome and 79 from a Y chromosome (ie, they …
patients with a maternal carrier … from an X chromosome and 79 from a Y chromosome (ie, they …
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples
L Mary, M Fradin, L Pasquier, C Quelin, P Loget… - European Journal of …, 2023 - Elsevier
… Familial segregation of the anomalies are reported in Table … a derivative chromosome from
a pericentric inversion. … for DSDs diagnosis but cytogenetics studies may still be relevant as (1…
a pericentric inversion. … for DSDs diagnosis but cytogenetics studies may still be relevant as (1…
Genetics of male infertility
C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
… /inversions) and microdeletions of the Y chromosome represent … In SRY-negative 46, XX
patients, ambiguous genitalia are a … , paracentric inversions, and marker chromosomes are the …
patients, ambiguous genitalia are a … , paracentric inversions, and marker chromosomes are the …
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
… presence of a balanced cytogenetic abnormality) have shown that … To help resolve this
structural ambiguity, the family was … In Family 35, we initially reported a 1.8-Mb inversion involving …
structural ambiguity, the family was … In Family 35, we initially reported a 1.8-Mb inversion involving …
An Apparently balanced complex chromosome rearrangement involving seven breaks and four chromosomes in a healthy female and segregation/recombination in …
AE Campos, C Rosenberg, A Krepischi… - Molecular …, 2021 - karger.com
… need for cytogenetic techniques complementary to chromosomal … Herein, we report on a
male patient, who presented with phenotypic … The authors would like to thank the family for their …
male patient, who presented with phenotypic … The authors would like to thank the family for their …
Genetic Basis of Male Infertility
M Shahid - NeuroQuantology, 2022 - search.proquest.com
… Chromosome 1, 3, 5, 6, and 10 pericentric inversions are … All mammals have the RBMY gene
family on the Y chromosome, … The cytogenetic examination for chromosomal alterations and …
family on the Y chromosome, … The cytogenetic examination for chromosomal alterations and …
Genetic variations in male infertility with azoospermia: summary of Doctor of medical sciences thesis: 315.02–Molecular Biology and Medical Genetics
S Racoviță - 2023 - repository.usmf.md
… Following molecular genetic (Y chromosome microdeletion … , ambiguous genitalia to
phenotypically normal men [14]. … In both patients, pericentric inversion involving both arms of …
phenotypically normal men [14]. … In both patients, pericentric inversion involving both arms of …
[PDF][PDF] Prenatal Diagnosis of Chromosome Abnormalities: 21 Years of Experience
Y Ozdemir, NC Yilanlioglu, M Yesil, A Ozden… - GMJ, 2022 - scholar.archive.org
… the demographic data and cytogenetic results of prenatal … Family history of any genetic
disease, previous pregnancy … , and 25 (1.0%) had pericentric inversion of chromosome 9. …
disease, previous pregnancy … , and 25 (1.0%) had pericentric inversion of chromosome 9. …