Duplication 6p and deletion 9p.

Abstract

Short reportspatient was trisomic for the region 16q21-qter with a karyotype of 46,XX,-9,+der(9),t(9;16)(p24;q21)mat (figure).The father's blood chromosomes were normal.The child was born at term after an uncomplicated pregnancy to unrelated Polish parents (mother 32, father 35).Birth weight was 2325 g, length 46 cm, and head circumference 32-5 cm.The newborn period was compli- cated by respiratory distress, a right pneumothorax, persistent fetal circulation secondary to meconium aspira- tion, and hypoglycaemia.The mother had a history of two previous miscarriages, each at three to foij months' gestation.An older brother was reported to be in good health and the family history was negative for mental retardation and congenital malformations.Abnormal features noted at birth and in subsequent examinations were a long face, coarse hair, prominent forehead with bossing, prominent nasal bridge with beak shaped nose, bilateral epicanthic folds, short palpebral fissures, strabismus, thin upper lip, micrognathia, high narrow palate with ridges, low set and posteriorly,rotated ears, short fingers with deep, abnormal palmar creases, clinodactyly of the fifth fingers, widely spaced nipples, hypotonia, and psychomotor retardation.No other anomalies of organ systems were detected.Echocardio- grams, skull x rays, head and abdominal ultrasound studies, TORCH titres, and CMV culture were normal.Partial trisomy 16q is a rare disorder with significant dysmorphism, psychomotor retardation, and reduced survival in liveborn infants.' 2 Garau et all postulated that trisomy 16q is mainly responsible for prenatal lethality of full trisomy 16.While partial trisomy 16q arises as the result of balanced parental translocations, the involvement of chromosomes in the translocations is not random.3In a review of 12 known cases of partial trisomy 16q,2 and in our own patient, translocations involved chromosomes 15, 22, 18, 21, 9, and 11.The trisomic segment in six patients, including ours, was 16q21--qter.Of the remaining seven 9 I e0 L i.16