We present a pair of dizygotic twins with different abnormal karyotypes. The chromosome anomaly is a sexual aneuploidy in both cases: 48,XXXXY in one, 47,XXY in the second. The origin of the chromosomal anomaly and the hypothetical relation between sexual aneuploidy and twinning is discussed. It is concluded that further studies in twins are necessary to prove the not yet solved problems of non...

A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-Küster anomaly). The deletion was inherited from the father, who presented the typical velocardiofacial syndrome pheno...

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...

Several reports have described the occurrence of chromosome abnormalities in autism, a neuro-developmental disorder characterized by social deficits, communication impairment, and a restricted range of interests. These include the fragile X abnormality and 15q duplications. In this report, we describe two cases of chromosome 2q37 and review the literature on this topic. We propose that deletion...

The clinical, cytogenetic and dermatoglyphic findings in a patient with a ring chromosome 21 are presented. This anomaly acts as a deletion of chromosomal material and results in specific congenital defects. A comparison is made with 24 cases of deletions involving chromosome 21 described in the literature. Six of these have been studied by means of recently developed chromosome banding techniq...

Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.

Objective: Advances in the science of genetics and development assisted reproductive techniques focus on genetic causes infertility. The aim this research is to reveal abnormalities terms sex chromosome aneuploidy Y microdeletions. Material Methods: A total 350 patients with azoospermia or severe oligozoospermia were selected. After general examination laboratory investigations performed, carto...