Structural Chromosomal Changes

F Tüttelmann, A Röpke - Andrology: Male Reproductive Health and …, 2023 - Springer
paracentric inversions, insertions, and marker chromosomes … , which can be visualized by
cytogenetic techniques (Chap. 8)… arm of the Y chromosome is checked on the patient’s DNA, eg…

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24. 3 upstream of the SOX9 …

T Takano, H Ota, H Ohishi, K Hata, R Furukawa… - European Journal of …, 2021 - Elsevier
… presence of Y chromosome and the sex determining region Y (… a paracentric inversion
involving the long arm of chromosome … Our cytogenetic and molecular genetic analyses revealed …

Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

TO Yahaya, EO Oladele, D Anyebe, C Obi… - … of the National Research …, 2021 - Springer
… , particularly those with a family history of infertility and women … of the chromosome, while
pericentric inversions include the … Y chromosome deletion, in particular, has been implicated in …

Genetic Counseling in Reproductive Medicine

S Singh, BS Abirami, FO D'Souza… - Genetic Testing in …, 2024 - Springer
Patients with dysgenetic gonads and a Y chromosome have an … , KISS1 genes), ambiguous
genitalia, and androgen insensitivity … The risk of pericentric inversions producing unbalanced …

[图书][B] Cases in Laboratory Genetics and Genomics (LGG) Practice

X Li - 2023 - books.google.com
… of a parental pericentric inversion of chromosome 8. It is a … These indications include
ambiguous genitalia, short stature, … of the Y chromosome and the long arm of the Y chromosome […

Ring Chromosome 13

P Li, ML Chong - Human Ring Chromosomes: A Practical Guide for …, 2024 - Springer
… in homologous chromatids at pericentric or distal loci, followed … Ambiguous genitalia occurred
in most male patients with a … these genetic factors for the family. Genetic counseling along …

Sertoli cell-only syndrome: etiology and clinical management

N Ghanami Gashti, MA Sadighi Gilani… - Journal of assisted …, 2021 - Springer
… A rare case of 46, XX male with ambiguous genitalia and … Paracentric inversion of
chromosome 7 (q22–31) [41] and … diagnosis and subtyping of Y chromosome microdeletions are …

Genetic Testing in Male Infertility

S Sethi, R Singh - Genetic Testing in Reproductive Medicine, 2024 - Springer
… Individuals with more than 35 years of age or a family history … of phenotypes ranging from
ambiguous genitalia in newborns to … Cytogenetic abnormalities can be identified by karyotyping …

[HTML][HTML] New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia

K Trpkov, O Hes, SR Williamson, AJ Adeniran… - Modern Pathology, 2021 - Elsevier
… MiTF family translocation RCCs exhibit varied morphologic patterns and fusion partners.
TFEB-amplified RCC occurs in older patients and is associated with more aggressive behavior. …

[HTML][HTML] Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

SR Lee, TH Lee, SH Song, DS Kim… - Clinical and …, 2021 - ncbi.nlm.nih.gov
… in the production of an extra Y chromosome and acquisition of the 47,… rates of cryptorchidism
and ambiguous genitalia [21]. … the inverted segment, whereas pericentric inversions occur …