Children with trisomy 21 display atypical manual skills that change to some extent during development. We examined grasp characteristics and their development in 35 children with trisomy 21, aged 4-18 years, who performed simple manual tasks (two manual tasks of the Movement Assessment Battery for Children, and grasping of five wooden blocks whose size was determined by their hand size). The ag...

Fetal trisomy 16 is considered uniformly lethal early in gestation. It has been reported to be associated with the variability of clinical features and outcomes. Mosaic trisomy 16 leads to a high risk of abnormality in prenatal cases. Intrauterine growth retardation (IUGR) is a common outcome of mosaic trisomy 16. Herein, we report on the case of Thai male IUGR fetus with trisomy 16 mosaicism. ...

down’s syndrome, or 21 trisomy, is the most common autosomal abnormality, with incidence of 1 per 815 live births in iran. worldwide reports indicate that about 95% are regular trisomy, or nondisjunction, 1% are mosaic and 4% due to translocation. however, these values show a geographical variation. a cytogenetic study of down's syndrome, or trismoy 21, was carried out on 366 cases (202 males a...

PATIENT Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: - MEDICATION - Clinical Procedure: - Specialty: Otolaryngology. OBJECTIVE Congenital defects. BACKGROUND Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertion...

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished ...

OBJECTIVE To investigate whether the maternal serum concentration of placental protein 13 (PP13) is altered in chromosomally abnormal pregnancies and to examine the potential value of this placental protein in screening for aneuploidies at 11-13 weeks. METHODS The maternal serum concentration of PP13 at 11-13 weeks was compared in 536 euploid and 134 aneuploid pregnancies (trisomy 21: n = 49;...

OBJECTIVE To re-evaluate in a larger cohort of patients if the maternal serum biochemical markers used in first trimester aneuploidy screening have the same marker distributions in pregnancies with a previous history of aneuploidy compared with those that have no previous history. METHODS Information related to previous pregnancy history is routinely recorded as part of first trimester screen...

OBJECTIVE To investigate the potential value of ultrasound examination of the fetal profile for present/hypoplastic fetal nasal bone at 15-22 weeks' gestation as a marker for trisomy 21. METHODS This was an observational ultrasound study in 1046 singleton pregnancies undergoing amniocentesis for fetal karyotyping at 15-22 (median, 17) weeks' gestation. Immediately before amniocentesis the fet...

BACKGROUND Historically, 50% of spontaneously expelled abortuses have been thought to be chromosomally abnormal; about 60% are trisomies. In general, trisomy 16 is the most frequent chromosomal abnormality, followed by trisomy 21 and trisomy 22. So far only 1 case of a female fetus with multiple congenital malformations associated with full trisomy 5 has been described. REPORT We present a ca...

Since the 1970s, about 30 cases of partial or complete trisomy 17p have been presented in the literature. Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these cases were described in infants and newborns; and to our knowledge only 3 cases of trisomy 17p have been detected intrauterine. Phenotypic features of trisomy 17p ...