A 46,XY/46,XX mosaicism diagnosed at amniocentesis: another case report
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چکیده
منابع مشابه
Report 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...
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BACKGROUND Dravet syndrome, a rare genetic disorder with early-onset epileptic encephalopathy, was first described by Dravet in 1978. Dravet syndrome is most frequently caused by various mutations of the SCN1A gene encoding the type 1 subunit of the neuronal voltage-gated sodium channel. CASE PRESENTATION Two sisters of a non-consanguineous Palestinian family from the Arab community in Israel...
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Background: Von-Willebrand Disease (VWD) is the most common inherited bleeding disorder with an autosomal inheritance pattern. Multiple Sclerosis (MS) is a neurological disease, causing neurodegeneration and demyelination of the central nervous system through autoimmune mechanisms, and is a major cause of non-traumatic disabilities in youths. Some studies have shown the higher plasma activity o...
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...
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Introduction: Placental mesenchymal dysplasia (PMD) is a rare lesion, characterized by atypical placental development with placentomegaly, hydropic cystic stem villi formation and anomalous villous stroma and vessels. PMD fetuses are often normal. Because of this characteristics it is important to do the differential diagnosis among gestacional trophoblastic disease, Beckwith Wiedemann syndrome...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2007
ISSN: 0197-3851
DOI: 10.1002/pd.1908