A child with a ring G chromosome (46,XX, Gr).
نویسندگان
چکیده
The patient was first seen at the age of 4 years 2 months because of persistent vomiting and failure to thrive. She was born in July 1965 at 38 weeks gestation after an uncomplicated pregnancy and a normal delivery; the birthweight was 2818 g. She was the eldest of four sibs of unrelated healthy parents aged 24 (father) and 22 years (mother) at the time of her birth. The mother had no known miscarriages. Four generations of the familiy were reviewed without uncovering any birth defect or hereditary disorder. Two days after the birth, the parents were informed that the baby was a mongol. Mental and motor development was slow. She sat up at 15 months, stood at 24 months, and walked at 42 months. She also failed to develop any speech. Apparently she thrived quite well until 8 weeks before admission to hospital in October 1969, when she began vomiting after every meal. This became persistent with evidence of dehydration and weight loss (4 kg). Examination revealed a thin, pale, and apathetic child. She measured 85 cm (below 3rd centile) in length, weighed 8-6 kg (below 3rd centile), and had a head circumference of 49 cm. Though she had an odd facies, her appearance did not suggest mongolism. The bridge of the nose was broad and prominent; and the ears were large and low set. The eyes were normal, except for a slight antimongoloid slant to the palpebral fissures. She also had micrognathia and a high arched palate. The heart, lungs, and abdomen were normal. There was no abnormality of the central nervous system. The stools were bulky, pale to almost white, and contained little or no bile pigment. There was no urobilinogen in the urine. The faeces contained no sugars and had a normal amino acid pattern. On no occasion was the patient jaundiced nor did her plasma bilirubin
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 8 2 شماره
صفحات -
تاریخ انتشار 1971