The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence absence SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome a chromosomal anomaly with makeup female (46, XX) and phenotypic presentation male. Previously known as XX sex reversal, it now called 46, testicular disorders sexual development (DSD). Although rare, presents...

AIMS To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups. METHODS A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk ...

Purpose: To correlate sonographic findings of fetal developmental abnormalities resulting from chromosomal aberrations and structural anomalies in 2nd trimester. Design: Cross-sectional study. Setting: Tertiary care centre. Patients and methods: Amid the reporting period from August 2007 to July 2014, prenatal fetal anomaly diagnosis in 9524 fetuses/babies were inspected and contrasted with pos...

AIMS To ascertain why 19.6% of pregnancies in which a fetal renal anomaly has been detected fail to produce a surviving child, and whether antenatal diagnostic accuracy has altered since specialised fetal medicine units were established in 1995. METHODS An analysis of deaths was conducted among fetuses and babies with a congenital abnormality in the urinary tract notified to the Northern Regi...

This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenome...

OBJECTIVE To estimate the incidence and type of chromosomal abnormalities in patients with primary and secondary amenorrhoea in Hong Kong. DESIGN Cytogenetic analysis and retrospective review. SETTING Clinical Genetic Service, Department of Health, Hong Kong. PATIENTS Case records of 549 patients with either primary (n=237) or secondary (n=312) amenorrhoea referred to the Clinical Genetic...

OBJECTIVE To determine the prevalence of termination of pregnancy for fetal anomaly (TOPFA) after 23 weeks of gestation in European countries, and describe the spectrum of anomalies for which late TOPFA is recorded. DESIGN Population-based study. SETTING Twelve European countries. POPULATION Nineteen registries of congenital anomaly in 12 European countries between 2000 and 2005. The numb...

A 17-year old female has been referred for karyotyping and genetic counseling. Proband had primary amenorrhea, short stature and poorly developed secondary sexual characteristics. Ultrasound scanning showed hypoplastic uterus and gonadal dysgensis. Chromosomal analysis revealed the mosaic status for the isochromosome formation in the long arm of X, i(Xq). Proband had 3 cell lines. Her karyotype...