717 TRISOMY 20 MOSAICISM IN AMNIOCYTES WITH DELIVERY OF INFANT NORMAL SAVE FOR PUNCHED-OUT SCALP LESION
نویسندگان
چکیده
منابع مشابه
Trisomy D-trisomy E mosaicism in an infant male.
The patient, a male, was the third child of a 41-year' 4 old mother and 45-year-old father. The pregnancy was terminated after a 39-week gestation by a Caesarean section for elective sterilization. Apart from the development of polyhydramnios (estimated 5 1), the pregnancy was uneventful. There was no history of viral infection, drug ingestion, or radiation Al? exposure. The mother had previous...
متن کاملCongenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.
متن کاملReport of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
متن کاملNormal-trisomy 13-15 Mosaicism in Two Infants.
It is generally accepted that there is a recognizable clinical syndrome associated with trisomy for one of the 13-15 group of chromosomes. The clinical features of this trisomic syndrome were first described by Patau, Smith, Therman, Inhorn, and Wagner (1960). In a recent paper Smith, Patau, Therman, Inhorn, and DeMars (1963) described a series of 7 cases and reviewed 7 others. The majority of ...
متن کاملTrisomy 22 mosaicism.
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1981
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198104001-00740