Deletions of Chromosome 18q and Congenital Heart Disease
نویسندگان
چکیده
منابع مشابه
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.
Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med. Genet. 69:280-286]. Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions have also been reported. We have evaluat...
متن کاملCongenital Heart Disease and Pregnancy
ضایعات مادرزادی قلب خط مشی های گوناگونی از قبیل مراقبت دقیق بیماران باردار تا پیشگیری از بارداری و یا خاتمه آن را در زنان سن باروری ایجاب می کند. با پیشرفت روشهای درمان جراحی و دارویی در تصحیح و یا بر طرف کردن علایم بیماری مادرزادی، اکنون بسیاری از زنان مبتلا به مرحله باروری رسیده و باردار می شوند. اداره موفقیت آمیز این زنان در طی بارداری و بلافاصله بعد از زایمان به همکاری نزدیک بین متخصصین ...
متن کاملMyelination in children with partial deletions of chromosome 18q.
BACKGROUND AND PURPOSE We compared myelin levels in white matter (WM) in typically developing children with those of children with partial deletions of chromosome 18q (18q-). METHODS Conventional spin-echo MR imaging at 1.9T was used to acquire T1-, T2-, and proton density-weighted images of the brain. From these images, a three-pool model was used to estimate the fraction of water in myelin,...
متن کاملGrowth hormone benefits children with 18q deletions.
Most individuals with constitutional deletions of chromosome 18q have developmental delays, dysmyelination of the brain, and growth failure due to growth hormone deficiency. We monitored the effects of growth hormone treatment by evaluating 23 individuals for changes in growth, nonverbal intelligence quotient (nIQ), and quantitative brain MRI changes. Over an average of 37 months, the treated g...
متن کاملPrevalence of Congenital Heart Disease in Primary School Children
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ژورنال
عنوان ژورنال: Pediatric Cardiology and Cardiac Surgery
سال: 2019
ISSN: 0911-1794,2187-2988
DOI: 10.9794/jspccs.35.186