Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases
LYF Hsu - American journal of medical genetics, 1994 - Wiley Online Library
Over 600 cases with a Y aneuploidy (other than non‐mosaic 47, XYY) were reviewed for
phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism …
phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism …
Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature
CM Tuck-Muller, H Chen, JE Martínez, CC Shen, S Li… - Human genetics, 1995 - Springer
Dicentrics are among the most common structural abnormalities of the human Y
chromosome. Predicting the phenotypic consequences of different duplications and …
chromosome. Predicting the phenotypic consequences of different duplications and …
A mosaic 45, X/46, X, 4 (?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique
JA Crolla, JC Llerena - Human genetics, 1988 - Springer
The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female
patient presenting with a 45, X/46, X, r (?) karyotype could not be resolved by conventional …
patient presenting with a 45, X/46, X, r (?) karyotype could not be resolved by conventional …
Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, southern hybridization and non-isotopic in situ hybridization
F Speleman, B Van der Auwera, K Mangelschots… - Human genetics, 1990 - Springer
In two female patients with a 45, X/46, X,+ mar karyotype the marker chromosomes were
identified as normal length nonfluorescent Y chromosomes (nlY nf) using non-isotopic in situ …
identified as normal length nonfluorescent Y chromosomes (nlY nf) using non-isotopic in situ …
XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene
AS Barbosa, TE Ferraz-Costa, M Semer, B Liberman… - Human genetics, 1995 - Springer
This paper reports a case of XY gonadal dysgenesis in two sisters. Both patients presented
an eunochoid female phenotype with normal external genitalia. At laparotomy, the elder …
an eunochoid female phenotype with normal external genitalia. At laparotomy, the elder …
Dicentric Y chromosomes: first part: cytogenetic and molecular aspects.
NB Abdelmoula, A Amouri - Annales de biologie clinique, 2005 - jle.com
Dicentric Y chromosomes have been reviewed twice in 1994 by Hsu et al. and in 1995 by
Tuck-Muller et al. who showed that dic (Y) are the most common Y structural abnormalities …
Tuck-Muller et al. who showed that dic (Y) are the most common Y structural abnormalities …
Les chromosomes Y dicentriques
NB Abdelmoula, A Amouri - Annales de Biologie Clinique, 2005 - jle.com
Les chromosomes dicentriques sont parmi les anomalies de structure les plus fréquentes du
chromosome Y. La prédiction de leurs conséquences phénotypiques est souvent difficile du …
chromosome Y. La prédiction de leurs conséquences phénotypiques est souvent difficile du …