The chromosomal abnormalities included three unbalanced translocations, one interstitial duplication, and one interstitial deletion ... hypoplastic left heart syndrome; 1 with aortic coarctation ...

We report on five unrelated patients with de novo terminal 9q34.3 microdeletions, including one patient with some clinical features resembling Opitz trigonocephaly C syndrome ... deletion of 9q in ...

The causes are largely unknown, but a new study points to a link involving a chromosomal microdeletion -- and also underscores the value of folic acid as a preventive ... Adding Folic Acid to ...

Purpose: Smith-Magenis syndrome (SMS ... This intragenic deletion was not seen in our sequencing analysis of more than 100 control chromosomes. Chronic ear infections (P = .068) and strabismus ...

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Each human cell contains 23 pairs of chromosomes that carry DNA within ... also referred to as Jacob’s syndrome, occurs when a male infant is born with an extra Y chromosome.

Fetal auricle examination is not covered in prenatal ultrasound screening, but many recent studies have verified that microtia may indicate chromosomal ... wide deletion repeat analysis using the ...

especially if accompanied by other phenotypic features of the syndrome. Approximately 90% of 22q11.2DS cases result from de novo deletions within the long arm of chromosome 22, with critical low-copy ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

Dysplasia syndrome was present in 1 patient ... RAA has been reported to be associated with genetic abnormalities, with an incidence of chromosomal abnormalities of approximately 15.3%–24% according ...