Developmental delay in child with deletion of chromosome 13. Chromosomal abnormalities are generally associated with multiple congenital malformations and mental retardation. Children with more than one physical abnormality, particularly if retarded, should therefore undergo chromosomal analysis as part of their investigation. Chromosomal disorders are incurable but can be reliably detected by ...

Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal...

Background: Division of Human Genetics (DHG) is a referral center for karyotyping and counseling to the couples as well as to the individuals referred with bad obstetric history and infertility. Materials and Methods: From 1972 to 2003, overall 1666 couples and 131 female partners with bad obstetric history (BOH) such as; spontaneous abortions, live births with congenital malformations and stil...

The present study describes the cytogenetic findings in cases suspected with chromosomal abnormalities, in cases of mental retardation, multiple congenital malformations, clinical features of Down's syndrome, Klinefelter's syndrome, Turner's syndrome, ambiguous sex, sterility, amenorrhea and history of repeated spontaneous abortions in couples. Cytogenetic studies were done in 144 of the total ...

Background: Recurrent miscarriage (RM) is defined as two or more consecutive pregnancy losses before 20 weeks of gestation as an important clinical problem, with an incidence of 1-3% among couples wishing to have children. There are several factors in the etiology of recurrent miscarriage. One of the main genetic causes which involve in the pathogenesis of RM is balanced chromosomal rearrangeme...

Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a ...

Comments Re a) After individual genetic counseling with regard to the risk of miscarriage caused by the invasive procedure and the risk of fetal chromosomal abnormality, every pregnant woman/couple decides whether an amniocentesis should be performed. From a strictly medical point of view, it is desirable that the risk of chromosomal abnormality be at least as high as that of miscarriage caused...