نتایج جستجو برای: trisomy 9
تعداد نتایج: 487797 فیلتر نتایج به سال:
BACKGROUND This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan's National Health Insurance program (NHI). METHODS A total of 28 cases of trisomy 13 seen at Mackay Memorial Hospital, Taipei, Taiwan, from 1985 to 2004 were retrospectively reviewed. Survival and manageme...
Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.
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...
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...
BACKGROUND A disintegrin and metalloprotease 12 (ADAM12-S) has previously been reported to be significantly reduced in maternal serum from women with fetal aneuploidy early in the first trimester and to significantly improve the quality of risk assessment for fetal trisomy 21 in prenatal screening. The aim of this study was to determine whether ADAM12-S is a useful serum marker for fetal trisom...
This case report presents the dental management of a 13-year-old girl with mosaic trisomy 9. She had: (1) severe psychomotor retardation; (2) short stature; (3) progressive microcephaly; (4) flat feet; (5) genu valgum; and (6) severe kyphoscoliosis. Dysmorphic facial features included: (1) maxillary prognathism; (2) narrow high-arched palate; (3) short philtrum; (4) small low posterior dysplast...
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