A female infant with multiple malformations is described. She has 47, XX, +22q-(q13) karyotype based on G-banding analysis. Her mother and father are chromosomally and clinically normal.
It had been well known that the chromosome no.9 showed a high susceptibility for the structural rearrangements in the somatic chromosomes.In a chromosome survey of the congenital defectives for the clinical diagnosis, a 6year-old girl was found to have an inverted chromosome of the no. 9 chromosome.The present article describes the clinical and cytogenetic evidence of this child.. Case reports.The patient was a 6-year-old and mentally retarded girl.She was born to a 25-year-old mother and a 27-year-old father as the first child in twice pregnancies.There was no history of abortion, still birth, congenital malformations, exposure to the atomic bomb, and consanguinity in this couple.The clinical examination revealed that her parents and younger brother were phenotypically normal.The patient was 3270 g in birth weight with circumference of 34 cm of the head and 32 cm of the breast, and with 50 cm in length at 41 weeks of gestation.Her remarkable clinical findings were growth retardation, small head, flat occiput, hypertelorism, inner epicanthal fold, downward slanted palpebral fissure, internal strabismus, nystagmus, blue sclera, malpigmentation of the eye grounds, low-set ears, malformed and large ears, preauricular tag on left, broad and low nasal bridge, large and protruding tongue, malaligned teeth, wide spread nipple, pigmented nevus on the chest, incurved and shortened little finger of both hands, talipes varus at left, and mental retardation:imbecile.Computed tomography revealed that her cerebral ventricle was slightly dilated.Her electroencephalogram was normal.Cytological findings.The chromosome preparations were made on the leucocyte cultures from the patient.The G-and C-banding differential stainings were also applied for the chromosome identifications.The chromosome counts were made with 24 well-delineated metaphases.The karyotype was analysed in 5 cells by the conventional Giemsa staining, and 5 cells each by G-, and C-banding analyses.The chromosome constitution of the patient based on the conventional Giemsa specimen showed 46 chromosomes which included the no. 9 chromosome having an unusually elongated short and shortened long arm.The G-, and C-banding analyses revealed that one of the no. 9 chromosomes showed the pericentric inversion at p11--~q13.Then the patient karyotype was given as 46,XX,inv(9) (p11g13).The chromosomal examination of her parents was not cooperated.Remarks and conclusion.The pericentric inversion of the chromosome no.9 has been reported by several authors.
The familial occurrence of the chromosome aberrations has been a rare event.In the present paper, a family with the XY-female and two 3/4 reciprocal translocations is to be described.Case reports.The propositus was a 5-year-old girl of the heavy mental retardation, 16 kg in weight, 10 cm in length.She was born to a 28-year-old mother and a 31-year-old father as the second child in the second pregnancy.There was no history of the abortion, still birth, congenital malformations, the exposure to the atomic bomb, and consanguinity in this couple.The clinical examination revealed that her parents and elder sister were phenotypically normal.The propositus was born prematurely, with severe cyanosis.The birth weight of the patient was 3150 g.The remarkable clinical signs of this propositus were flat occiput, peromelie and bowing of the forearm at right, radius aplasia, idiot.Cytological findings.The chromosome preparations were made on the leucocyte cultures from the propositus, her parents and her elder sister.The G-and Q-banding differential stainings were applied for the chromosome identification.The chromosome counts were made with 65-well delineated metaphases.The karyotype was analysed in 15 cells by the conventional Giemsa specimens, 24 cells by G-banding, and 26 cells by Q-banding differential staining.
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