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09-Aug-2017 03:47

In addition, she has a persistent pupillary membrane and congenital chorioretinal atrophy.

The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non-dysjunctions.

She was born by caesarean section during the 36th gestational week as a result of premature membrane rupture.

Her birth weight was 2400 g (20–50th centile), length was 45.4 cm (25th centile), and head circumference was 34 cm (75–90th centile). Cytogenetic analysis was requested on the third day after birth because the infant had a cleft palate with ventriculomegaly, and was performed on the patient’s cultured peripheral blood lymphocytes.

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We present a case of pentasomy X with maternal origin of the extra X chromosomes.

The patient was an 11 month old girl, the second child of healthy unrelated parents (mother aged 29, father 33).

Both the parents and her sibling have a normal karyotype.The results of a molecular and cytogenetic study in our case.(A) The karyotype of our patient showing 49, XXXXX (G banding; original magnification, ×1000).Speaking about safety, the general manager instructed the officials to intensify the field level checks, track maintenance work and address the related problems on a priority basis.

He reviewed all unsafe working activities on the zone and advised the officials to take preventive measures to arrest any such incidents, the SCR authorities added.The condition is typically characterised by severe mental retardation, craniofacial malformation, short stature, and other physical abnormalities.