Multiple anomalies associated with a small extra metacentric autosome.

An extra small metacentric autosome in a mentally retarded boy with multiple malformations.

An extra small metacentric chromosome in a female child.

Three cases associating multiple congenital anomalies with a small extra metacentric chromosome have been reported by Fr0land, Holst, and Terelev (I963), Gustavson, Atkins, and Patricks (I964), and Taft, Dodge, and Atkins (I965). All three occurred in boys. Because this occurred in male patients only, the possibility that this extra small chromosome was associated with the X chromosome could no...

An extra small metacentric chromosome in association with multiple congenital abnormalities.

Excess genetic material in the form of a small metacentric chromosome, often smaller than a member of the G group, has been reported in a number of cases (Ilberry, Lee, and Winn, 1961; Fr0land, Holst, and Terslev, 1963; Uchida et al, 1964; Taft, Dodge, and Atkins, 1965; Gustavson, Atkins, and Patricks, 1964, Crawfurd and Lele, 1965; Tamburro and Johnson, 1966; Gamstorp, Hfikansson, and Lagergre...

Anomalies of development in a girl with unusual sex chromosomal mosaicism.

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...

Frequency of Congenital Heart Disease in Neonates with Extra Cardiac Anomalies

Background Diagnosis of congenital heart disease (CHD) in neonates with extra cardiac anomalies is effective in their clinical management and surgical outcomes. This study aimed to investigate the frequency of CHD in neonates with extra cardiac anomalies admitted to a neonatal intensive care unit (NICU). Material...