Prenatal Testing with panorama – Sex Chromosome Abnormalities

Sex chromosome abnormalites

Sex chromosome abnormalities occur when there is an extra or missing copy of one of the sex chromosomes. One type of sex chromosome abnormality that affects girls is called Turner syndrome. Girls with Turner syndrome are missing one X chromosome. Other common sex chromosome abnormalities are caused by an extra chromosome. Although most affected individuals have an IQ that is in the normal range, some but not all, have learning disabilities or delays. In general, presentation is less severe than what is seen in trisomies 18, 13, and 21. Children with sex chromosomes abnormalities typically do not have major birth defects. The risk of some sex chromosome abnormalities increase with maternal age.

Turner syndrome

Babies with monosomy X are females who have one X chromosome instead of two. Unfortunately, a high proportion of pregnancies with monosomy X will result in a miscarriage in the first or second trimester of pregnancy. Babies with monosomy X that make it to term may have heart defects,learning difficulties, and infertility. In most cases, girls with monosomy X will need extra medical care including hormone therapies at various stages of life.
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Klinefelter syndrome

Boys with Klinefelter syndrome have an extra X chromosome (XXY). This condition can be associated with learning difficulties and behavioral problems. Men with Klinefelter syndrome may be infertile. About 1 in 1,000 babies will be born with Klinefelter syndrome.
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Triple X syndrome

Girls with Triple X syndrome have an extra X chromosome (XXX). Girls with this condition may be taller than average and may experience learning difficulties or behavioral problems. Approximately 1 in 800 girls will be born with an extra X chromosome.
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Jacob’s syndrome

Boys with Jacob’s syndrome have an extra Y chromosome (XYY). Most babies with XYY syndrome do not have any birth defects. Boys with XYY may be taller than average and have an increased risk for learning, speech, and behavioral problems. Approximately 1 in 650 boys will be born with an extra Y chromosome.
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