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Prenatally diagnosed mosaicism for isochromosome 20q is generally reported in association with a normal outcome at birth and is rarely confirmed postnatally. However, the origin of these abnormal cells is unclear and there are few reports of long-term outcomes. We present an additional case of prenatally detected isochromosome 20q, with normal outcome up to age 3.6 years. The abnormal cells, while present at high levels in the amniotic fluid, could not be confirmed in placenta or fetal blood. Nonetheless, based on a review of the literature, the level of isochromosome 20q cells found is associated with risk of abnormal outcome, suggesting a possible effect in some cases. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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Non-mosaic trisomy 22 is a common cause of first trimester miscarriage and has a livebirth incidence of 1 in 30 000–50 000. Consequently there is a paucity of information for counselling parents. Detection in the second trimester is rare. It is commonly associated with severe growth retardation and multiple structural abnormalities. Oligohydramnios is frequently seen and can make detection of other abnormalities difficult. The outlook is uniformly poor and survival beyond the first trimester may present management dilemmas. A thorough fetal assessment including high-resolution cytogenetics with or without FISH is required for counselling. Careful plans for intrapartum and neonatal management may be necessary. The recurrence risk is thought to be low but information is very limited as there have been no reported cases of recurrence. We present two case of non-mosaic trisomy 22 including the first to be diagnosed subsequent to investigation for a high serum screening Down's risk. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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Andrew B. Sparks Eric T. Wang Craig A. Struble Wade Barrett Renee Stokowski Celeste McBride Jacob Zahn Kevin Lee Naiping Shen Jigna Doshi Michel Sun Jill Garrison Jay Sandler Desiree Hollemon Patrick Pattee Aoy Tomita-Mitchell Michael Mitchell John Stuelpnagel Ken Song Arnold Oliphant 《黑龙江环境通报》2012,32(1):3-9
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