Trisomy 21 and facial developmental instability
نویسندگان
چکیده
منابع مشابه
Lipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21.
BACKGROUND It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids. METHODS We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years. The cytogenetic analysis r...
متن کاملAn unusual combination of trisomy 21 and partial trisomy 5q.
The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47...
متن کاملTrisomy 21 tilts the balance.
Approximately 5% of children with Down syndrome (DS) are born with a unique transient clonal megakariyo-erythroblastic proliferation disorder often called transient myeloproliferative disorder (TMD). Spontaneous recovery usually occurs within up to several months. However, about one-fifth of these patients will develop full-blown acute leukemia with biphenotypic megakaryocyticerythroid features...
متن کاملTrisomy 21 and early brain development.
Trisomy for human chromosome 21 (Hsa21) results in Down syndrome (DS). The finished human genome sequence provides a thorough catalog of the genetic elements whose altered dosage perturbs development and function in DS. However, understanding how small alterations in the steady state transcript levels for <2% of human genes can disrupt development and function of essentially every cell presents...
متن کاملFrontomaxillary facial angle in trisomy 21 fetuses at 16-24 weeks of gestation.
OBJECTIVES To establish a normal range for the frontomaxillary facial (FMF) angle by three-dimensional (3D) ultrasound imaging and to examine the FMF angle in trisomy 21 fetuses at 16-24 weeks of gestation. METHODS We measured the FMF angle using 3D volumes of the fetal profile obtained with the transducer parallel to the long axis of the nose and at 45 degrees to the palate, which had been a...
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ژورنال
عنوان ژورنال: American Journal of Physical Anthropology
سال: 2013
ISSN: 0002-9483
DOI: 10.1002/ajpa.22255