منابع مشابه
Mosaic partial trisomy 17q2.
Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal...
متن کاملReport of a new case and clinical delineation of mosaic trisomy 9 syndrome.
Report of a new case and clinical delineation of mosaic trisomy 9 syndrome SUMMARY A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micro-gnathia, and microsomy. Up to date, 11 live-born infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype corr...
متن کاملNormal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.
A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9...
متن کاملNew report of two patients with mosaic trisomy 9 presenting unusual features and longer survival.
CONTEXT Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival. CASE REPORTS The first patient was a boy aged six years and five months presenting weight of 14.5 kg (< P3), height of 112 cm (P10), head circumference of 49 cm (P2), prominent f...
متن کاملEstablishment of human-embryonic-stem-cell line from mosaic trisomy 9 embryo.
OBJECTIVE Human-embryonic-stem-cell (hESC) lines derived from chromosomally or genetically abnormal embryos obtained following preimplantation genetic diagnosis are valuable in investigating genetic disorders. MATERIALS AND METHODS In this study, a new hESC line, Center of Clinical Reproductive Medicine 8 (CCRM8) was established by isolation, culture, and passaging of the inner cell mass of m...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1986
ISSN: 1468-6244
DOI: 10.1136/jmg.23.2.189