Genetic mutations associated with Pierre Robin syndrome/sequence: a systematic review
… Classical cytogenetic analysis with FISH for a 22q11.2 … sequencing is used in a small
number of patients. Additional … patients gave a family history PRS or cleft palate, 12 patients …
number of patients. Additional … patients gave a family history PRS or cleft palate, 12 patients …
[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 - researchgate.net
… 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 …
14 was also present … in case 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 …
ethnic background. • Genetic screening based on cell-free DNA may be pursued by any patient …
Sex chromosome pairing and fertility in the heterogametic sex of mammals and birds
AJ Solari - Fertility and Chromosome Pairing, 2020 - taylorfrancis.com
… of the X and Y chromosomes in the most-studied eutherian mammals, … of the ultrastructural
approach to cytogenetics. Almost as … (the third species bears a pericentric inversion) . 108 The …
approach to cytogenetics. Almost as … (the third species bears a pericentric inversion) . 108 The …
[HTML][HTML] Goyal-Naqvi Syndrome (concurrent trisomy 10p and terminal 14q deletion): a review of the literature
… Intersex conditions have been found to commonly co-exist. As other … of studies on the
management of these patients is present. However, the female child reported with GNS was found …
management of these patients is present. However, the female child reported with GNS was found …
Linear skin defects with multiple congenital anomalies (LSDMCA): an unconventional mitochondrial disorder
A Indrieri, B Franco - Genes, 2021 - mdpi.com
… Given the presence of aborted fetuses in familial cases and … short arms of the X and Y
chromosomes and resulting in Xp … can be found in patients in which the mutated X chromosome is …
chromosomes and resulting in Xp … can be found in patients in which the mutated X chromosome is …
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 …
Y chromosome [29]. The etiology … Our examination of familial cases revealed that a boar was …
Internship in Laboratory Clinical Genetics
JSM da Silva - 2022 - search.proquest.com
… 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. …
[图书][B] Basic Science in Obstetrics and Gynaecology E-Book: Basic Science in Obstetrics and Gynaecology E-Book
… as large as chromosome 1 and the Y chromosome being the … forms the basis of cytogenetic
reports. The total number of … single arm of the chromosome (paracentric inversion) or both …
reports. The total number of … single arm of the chromosome (paracentric inversion) or both …
Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)
Y Ye, J Wang, X Quan, K Xu, H Fu, W Gu, J Mao - BMC nephrology, 2020 - Springer
… are normal, and there is no family history of renal disorders. … inactivation (XCI) are still unclear
and, in our patient, short … or pericentric region of the p arm, or misdivision occurred in the …
and, in our patient, short … or pericentric region of the p arm, or misdivision occurred in the …