Ring Chromosome 22

K Phelan - Human Ring Chromosomes: A Practical Guide for …, 2024 - Springer
… a molecular cytogenetic technique that locates specific DNA … These familial studies demonstrate
that, even if the RC22 … from a maternal pericentric inversion of chromosome 22. Unlike …

Genetic Aspects of Male Infertility

D Prokai, O Bukulmez - Male Infertility: Contemporary Clinical Approaches …, 2020 - Springer
… (DAZ) gene on Y chromosome belongs to a family of three members: … Patients may have
ambiguous genitalia and abdominal … For example, paracentric inversions involving Xq12–25 or …

Canary in the coal mine? Male infertility as a marker of overall health

N Punjani, DJ Lamb - Annual Review of Genetics, 2020 - annualreviews.org
… gene family), aneuploidy (of chromosome 12), alterations in DNA … of the Y chromosome
include isodicentric Y chromosomes. … normal male or have ambiguous genitalia. Secondary to …

[HTML][HTML] The genetic causes of male infertility: A Middle East and North Africa perspective

R Duvuru, M Halabi, TS Omolaoye… - F1000Research, 2022 - ncbi.nlm.nih.gov
… abnormalities found in the MENA region: (i) Y chromosome … (1.68%) were pericentric
inversion of chromosome 9; one (… azoospermia and subsequent infertility in the family studied. …

Whether to transfer mosaic embryos: a cytogenetic view of true mosaicism by amniocentesis

KL Huang, CC Tsai, HH Cheng, YJ Huang… - Reproductive …, 2021 - Elsevier
… For SCM, the cell lineage containing a Y chromosome is … present as true hermaphroditism
or with ambiguous genitalia … , a mosaic pericentric inversion of chromosome 9 may result in …

Study of Chromosome

D Patwardhan, SA Varshini, L Galoth - Genetics Fundamentals Notes, 2022 - Springer
family are nearly identical to each other. Each repeat unit, called an amplicon, is present on
the euchromatin region of the Y chromosome. … For pericentric and paracentric inversions, the …

Clinical and gonadal transcriptome analysis of 38, XX disorder of sex development pigs

…, C Yu, H Wang, Y Yang, H Li, Y Li - Biology of …, 2024 - academic.oup.com
… Blood samples were collected for molecular and cytogenetic … the SRY gene located on the
Y chromosome [29]. The etiology … Our examination of familial cases revealed that a boar was …

[PDF][PDF] Bilateral ovarian germ cell tumor in a 46, XX female with Nijmegen breakage syndrome and hypergonadotropic hypogonadism

MA Krawczyk, M Styczewska… - … of Clinical Research …, 2022 - jag.journalagent.com
… A paracentric inversion of chromosome 14 was also present … This patient was cytogenetically
evaluated at the age of 20 … of absence of the Y chromosome is low. Therefore, in XX PGD …

[图书][B] Comprehensive gynecology

DM Gershenson, GM Lentz, RA Lobo - 2021 - books.google.com
… region Y) gene found on the short arm of the Y chromosome. … of family history or reported
ethnic background. • Genetic screening based on cell-free DNA may be pursued by any patient

[PDF][PDF] … in a 46, XX Female with Nijmegen Breakage Syndrome and hypergonadotropic hypogonadism Short title: Bilateral Ovarian Germ Cell Tumor in NBS Patient

MD Iliszko - 2021 - cms.galenos.com.tr
Cytogenetic studies revealed female karyotype with a … A paracentric inversion of chromosome
14 was also present … in case of absence of the Y chromosome is low. Therefore, in XX PGD …