Chromosomal abnormality associated with congenital macroglossia and other abnormalities.

Chromosomal abnormality associated with congenital macroglossia and other abnormalities.

Armendares, S., Buentello, L., Salamanca, F., and Cantu-Garza, J. M. (1972). A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. Journal of Medical Genetics, 9, 96-100. Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and vari...

Association of Fetal and Parental Chromosomal Abnormalities with Congenital Anomalies

Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies. Methods: A cross-sectional study was performed in a tertiary referral center (Afzalipour Hospital) over 16 months period (2011-2012). The study groups consisted of 77 fe...

Congenital Heart Defects and Chromosomal Abnormality

Chromosomal abnormality is one of the causal factors in the formation of the congenital heart defects. 65 patients (33 male and 32 female) with heart defects were referred for karyotyping and counseling. Chromosomal abnormalities were detected in 27 (41.5%) and 38 had a normal karyotype. Numerical abnormality was found in 21 (77.8%) and structural in 6 (22.2%), numerical was detected in 14 fema...

Chromosomal Abnormality in Men with Impaired Spermatogenesis

Aberrant Lacrimal Gland Associated with Other Congenital Abnormalities.

AN aberrant lacrimal gland is an unusual congenital and developmental abnormality. The clinical picture differs from that of an ectopic lacrimal gland, because in the aberrant forms, the main lacrimal gland is in its place and the other gland is additional. In ectopia, the original lacrimal gland is considered to have luxated, and this is not as rare as the appearance of aberrant tissue (Duke-E...