ABSTRACT
A newborn infant girl died at 1 day and was found to have severe intrauterine growth retardation, microcephaly, cleft lip and palate, single umbilical artery, absent thumbs, bicuspid pulmonic valve, pulmonary hypoplasia, malrotation of large and small bowel, and a 46,XX,13q+ chromosome constitution derived from a paternal t(4;13)(q25;q32) with resulting del(13q) and dup(4q). The paternal grandmother and great-grandmother also carried the balanced translocation. Each had had a child with multiple congenital anomalies including "duplex" thumbs. However, a chromosome analysis was not performed on these abnormal infants. Our patient's clinical and cytogenetic manifestations are discussed in relation to the Niebuhr map of chromosome 13.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosomes, Human, 13-15 , Chromosomes, Human, 4-5 , Adult , Chromosome Banding , Chromosome Deletion , Female , Humans , Infant, Newborn , Male , Pedigree , Pregnancy , Translocation, GeneticABSTRACT
The blast cells of a 14-year-old patient in the blastic phase of chronic myelogenous leukemia (CML) were studied. Cellular morphology, presence of the enzyme terminal deoxynucleotidyl transferase (TdT), and reactivity to the common acute lymphoblastic leukemia antiserum (CALLA) substantiated a lymphoid blast cell line. Immunologic surface markers were nonreactive for E-rosette (T) cells and immunoglobulin-bearing (B) cells. Cytogenetic, studies revealed persistance of the Philadelphia chromosome and a near-haploid cell line, i.e., 28,XY,t(9;22), +14, +15, +21, +22(GTG). The patient responded to chemotherapy with vincristine, prednisone, and L-asparaginase, first line drugs used for remission-induction of acute lymphoblastic leukemia in childhood. We suggest that severe hypodiploidy or near-haploidy, along with TdT and CALLA, may provide more accurate prognostic information in patients with CML and the lymphoid blastic crisis.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Haploidy , Leukemia, Myeloid/genetics , Adolescent , B-Lymphocytes/cytology , Cell Line , Chromosomes, Human, 21-22 and Y , Humans , Karyotyping , Lymphocytes/immunology , Male , Rosette Formation , T-Lymphocytes/cytology , Translocation, GeneticSubject(s)
Anencephaly/genetics , Hydranencephaly/genetics , Consanguinity , Female , Genetic Counseling , Humans , Infant, Newborn , Male , Pedigree , RiskABSTRACT
We report chromosome rearrangements and/or duplication of chromosomes 11 and/or 22. This investigation was prompted by propositi with multiple congenital anomalies and an apparently identical chromosome abnormality - ie, 47, +der(22)t(11;22)(q23;q11.2)mat in two unrelated families. The propositi had failure to thrive, development delay, cleft palate, congenital heart disease, meningomyelocele, and hydrocephaly. The breakage points identified on chromosomes 11 and 22 are site-specific and occur in a nonrandom fashion. Band 11q23 corresponds to the gap produced in some individuals by special treatment of the chromosome preparation with mercaptoethanol and may provide a method to identify individuals at risk for chromosome breakage and rearrangements during gametogenesis.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosomes, Human, 21-22 and Y , Chromosomes, Human, 6-12 and X , Female , Heterozygote , Humans , Infant, Newborn , Karyotyping , Male , Pedigree , PhenotypeABSTRACT
Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, highly arched or cleft plate, micrognathia, malformed auricles, short, webbed neck, clinodactyly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizable entity.
