[Genetic analysis for 2 females carrying idic(Y)(p) and with sex development disorders].
OBJECTIVE
To investigate the phenotype-genotype association of isodicentromere Y chromosome by analysis of two female patients carrying the chromosome with sexual development disorders.


METHODS
The karyotypes of the two patients were determined by application of conventional G banding of peripheral blood samples and fluorescence in situ hybridization (FISH). PCR was applied to detect the presence of SRY gene.


RESULTS
Conventional karyotype analysis showed case 1 to be a mosaic: mos.45,X[38]/46,X,+mar[151]/47,XY,+mar[5]/47,X,+mar × 2[2]/46,XY[4], FISH showed that 12 different cell lines were presented in the karyotype of case 1 and partial cell lines with SRY gene, the marker is an isodicentromere Y chromosome [idic(Y)(p)]. No mutation was found in the SRY gene. The karyotype of case 2 was mos.45,X[25]/46,X,+mar[35]. FISH showed the marker to be an idic(Y)(p) without the SRY gene.


CONCLUSIONS
The karyotype of patients carrying idic(Y)(p) seems unstable, and female patients have the characteristics of short stature and secondary sexual hypoplasia. Karyotype analysis combined with FISH analysis can accurately determine the breakpoint of idic(Y) and identify the types of complex mosaic, which may facilitate genetic counseling and prognosis.
Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410078, China. tanyueqiu@sina.com.
Yanan
Y
Zhang
Hua
H
Wang
Zhengjun
Z
Jia
Jiancheng
J
Hu
Wanglong
W
Cao
Yueqiu
Y
Tan
D000293:Adolescent; D002648:Child; D041322:Chromosomes, Human, Y; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D059785:Karyotype; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein / Q000235:genetics
C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein