Possible complex translocation t(9; 14; 13)(q12;pl?;q31) in mother of a child with 9p-trisomy syndrome

Summary A mentally retarded boy with trisomy 9p is described. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in his mother, who has a complex translocation involving chromosomes 9, 13, and 14. Based on both G-, Q-banding, and DNA replication patterns, the patient's karyotype was identified as 47,XY,-13, +(9;13) (9pter9q12::13q3113qter), +t(13;14) (13pter13q31::14pl?14pter). We suppose his mother's karyotype to be 46,XX,-9,-13,-14,+t(9;13) (9pterq12::13q3113qter), +t(13;14) (13pter13q31::14pl?14pter), +t(9;14) (9qter9q12::14pl?14qter). His phenotypically normal brother and sister are also carriers, having the same translocation chromosome as their mother. Clinical findings of the patient included peculiar face with hypertelorism, prominent nasal bridge and deformed helix, marked delay of osseous development, hypoplastic phalangia in fingers and toes, dysplastic nails and absence of digital triradii.     

Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies

Summary Gene dosage studies yielded results consistent with assignment of the locus for nucleoside phosphorylase to band 14q13. The red blood cells from a patient with the karyotype 47,XX,+der(14),t(8;14)(8qter8q24: :14q2114pter)pat had enzyme activity 50% higher than red cells from 47 normal controls, two trisomies involving chromosomes other than 14, and five balanced translocations involving chromosome 14. On the other hand, the red cells of a case with a karyotype 45,XX,-14,-22,+der(22),t(14;22)(14qter14q11 or 14q12::22p1122qter)mat and a case with a karyotype 47,XX, +der(14),t(14;16)(14pter14q11::16q2416qter)mat had normal activity.     

Interstitial deletion of the short arm of chromosome 3

Summary A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pterp14.2::p11qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p21q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11p14.2).     

Possible intrachromosomal duplication in a case of trisomy 9p

Summary A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p)(pterp13::p21p24::p13qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity.     

A new translocation t(1;4;11) in congenital acute nonlymphocytic leukemia (acute myeloblastic leukemia)

Summary A new translocation t(1;11;4)(1pter1p32::11q23 11q13::4p164qter) was found in the peripheral blood of a patient with congenital acute myeloblastic leukemia (AML). It was concluted that this translocation may represent a new mutation, which caused the leukemia with very high leukocytosis, hepatosplenomegaly, leukemic infiltration of the majority of the organs, and a very poor prognosis.     

Regional mapping of the locus for hexokinase-1 (HK1) to 10p11→q23 by gene dosage in human fibroblasts

Summary The hexokinase (HK) activity in human fibroblasts was close to that expected for a gene dosage effect in a mosaic cell line with about 86% trisomy 10 cells (64% greater than four control lines with normal karyotypes). There was no dosage effect for HK in the cell line that was trisomic for 10q24qter, nor in the cell line monosomic for 10pterp12. The data suggest an assignment of the HK1 locus (the only hexokinase in fibroblasts) to 10p11q23 by exclusion.     

Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosme 2

Summary Clinical and cytogenetical findings are described in an infant with a de novo deletion of the long arm of chromosome 2. The boy's karyotype is 46,XY, rec(2)delq,t(2;7) (2pter2q34::7p217pter) (7qter7p21::2q362qter). He showed developmental retardation, low-set ears, micrognathia, short neck, abundant skin of the neck, tetralogy of Fallot, bipartite labialike scrotum, clitorislike penis, cryptorchism, and deformities of the hands and feet.     

Regional mapping of catalase and Wilms tumor—aniridia,genitourinary abnormalities,and mental retardation triad loci to the chromosome segment 11p1305→p1306

Summary Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor—aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band. Case 1 had the aniridia-Wilms tumor association, and case 2 showed the AGR triad. The karyotypes identified by high resolution banding techniques were 46,XY,del(11)(pterp13::p11.11qter) for case 1 and 46,XY,t(2;17) (q23;q25), del(11) (pterp13::p11.2 qter) for case 2. In both cases, the distal breakpoints of the deleted chromosomes 11 appeared to have occurred on the middle portion of 11p13 (11p1305p1306). The level of erythrocyte CAT activities in case 1 was reduced (47% of normal), while that in case 2 was normal. The results suggested not only that both the CAT and WAGR should be mapped to chromosome region 11p1305p1306, but also that in this region the CAT locus is more distally placed than the WAGR locus. Because of the proximity of the two gene loci, assays of erythrocyte CAT may be useful to identify a submicroscopic deletion in some patients with sporadic aniridia and to predict a risk of developing Wilms tumor.     

A case of 21q-syndrome with normal SOD-1 activity

Summary A female infant with del(21)(pterq22.1-2:) constitution identified by G, Q, and R banding is reported. She had marked mental and physical retardation, generalized hypertonia, microphthalmia with persistent hypoplastic primary vitreous, blepharochalasia, high nasal bridge, micrognathia, malformed ears with preauricular pits, and overlying fingers. The assay for superoxide dismutase-1 (SOD-1) activity in the patient revealed a normal value and it was suggested that the gene locus for SOD-1 in 21q22.2qter is not compatible with the presence of the gene dosage effect in the monosomic state.     

Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3→qter)

Summary The XmnI genotype at the apolipoprotein A-I locus was heterozygous in a boy with partial deletion of the long arm of chromosome 11, del(11)(q23.3qter). The apolipoprotein A-I gene, previously assigned to chromosome region 11q23q24, has been more specifically localized to 11q23 by excluding the region 11q24qter.     

10q(q23→qter) duplication: GOTs,HK1, and other gene markers

Summary Gene marker analyses have been carried out in a patient with 10q(q23qter) duplication. The observed elevation of red cell glutamic oxaloacetic transaminase activity is compatible with earlier somatic cell hybridization studies that mapped the locus to this region. Hexokinase-1 activity in the red cells was normal, which is consistent with its prior assignment to the unaffected part of chromosome 10 (10pterq23).     

Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X

Summary Anonymous DNA probes mapping to human chromosome 16 and the distal region of the human X chromosome were isolated from a genomic library constructed using lambda EMBL3 and DNA from a mouse/human hybrid. The hybrid cell contained a der(16)t(X;16)(q26;q24) as the only human chromosome. Fifty clones were isolated using total human DNA as a hybridisation probe. Forty six clones contained single copy DNA in addition to the repetitive DNA. Pre-reassociation with sonicated human DNA was used to map these clones by a combination of Southern blot analysis of a hybrid cell panel containing fragments of chromosomes 16 and X and in situ hybridisation. One clone mapped to 16pter 16p13.11, one clone to 16p13.316p13.11, four clones to 16p13.316p13.13, two clones to 16p13.1316p13.11, one clone to 16p13.11, seven clones to 16p13.1116q12 or 16q13, four clones to 16q12 or 16q13, three clones to 16q1316q22.1, four clones to 16q22.10516q24, and nineteen clones to Xq26Xqter. Two clones mapping to 16p13 detected RFLPs. VK5 (D16S94) detected an MspI RFLP, PIC 0.37. VK20 (D16S96) detected a TaqI RFLP, PIC 0.37 and two MspI RFLPs, PIC 0.30 and 0.50. The adult polycystic kidney disease locus (PKD1) has also been assigned to 16p13. The RFLPs described will be of use for genetic counselling and in the isolation of the PKD1 gene. Similarly, the X clones may be used to isolate RFLPs for genetic counselling and the isolation of genes for the many diseases that map to Xq26qter.     

Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization

Summary We have further regionally localized the gene for human acid alpha glucosidase (GAA) to 17q21q23 by examinaiton of hybrid clones derived from a fusion between human fibroblasts carrying a 17/19 balanced translocation (17pter17q23::19p13.319pter; 19qterp13.3::17q2317qter) and a mouse line deficient in thymidine kinase. These hybrids were constantly maintained in HAT selective media in order to select for the presence of the human thymidine kinase gene on the intact chromosome 17 (17q21-q22) or the 17/19 (17pter17q23::19p13.319pter) translocation chromosome. We detected human GAA by rocket immunoelectrophoresis, using a human specific heterologous antibody raised against human acid alpha glucosidase (GAA) (Honig et al. 1984). Three secondary clones, which contained the 17/19 translocation and no intact chromosome 17 or 19, were still positive for GAA. Two of these secondary clones contained the distal portion of the 17/19 translocation chromosome, with a break in the band 17q21 (probably at 17q21.2), attached to a mouse chromosome. Combined with earlier results (Weil et al. 1979; Nickel et al. 1982; Honig et al. 1984), the gene for GAA can be assigned to 17q21.217q23. Additionally, these clones were negative for human peptidase D (PEPD), alpha mannosidase B (MANB), and phosphohexose isomerase (PHI). Combined with previous results (Ingram et al. 1977; Bruns et al. 1979), these results exclude the genes for PEPD and MANB from 19pter19p13.3 and confirm the exclusion of the gene for PHI from this segment of chromosome 19 (Wilson et al. 1984; Ingram et al. 1977).     

Production of a novel syrup containing neofructo-oligosaccharides by the cells of Penicillium citrinum

A novel syrup containing neofructo-oligosaccharides was produced from sucrose (Brix 70) by whole cells of Penicillium citrinum. The efficiency of fructo-oligosaccharides production was more than 55% and those of the main carbohydrate components, 1-kestose (Fruf 21Fruf 21 Glc), nystose (Fruf 21Fruf 21 Fruf 21 Glc) and neokestose (Fruf 26 Glc12 Fruf), were 22, 14 and 11%, respectively.     

Translocation t(7p+; 13q-) associated with recurrent abortion

Summary A balanced translocation was found in a normal female with a history of four abortions. On the basis of the Giemsa-banding pattern the abnormality was interpreted as to be a translocation of a part of the long arm of chromosome 13 to the short arm of chromosome 7:t(7;13)(7qter7p22::13q1413qter;13q1413pter::7p227pter). Problems in genetic counseling are discussed with respect to this case.Supported by the Forschungsprojekt Medizinische und soziale Probleme der menschlichen Reproduktion des Ministeriums für Gesundheitswesen der DDR.     

Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature

Summary An abnormal short-lived female infant with almost complete trisomy 13 (pterq32 or 33) and partial monosomy 15 (pterq14 or 15) resulting from an adjacent 2 meiotic disjunction of a paternal reciprocal translocation is described. Cases with monosomy of chromosome 15 material are reviewed. It appears likely that monosomy of an interstitial long arm segment, approximating to 15q2124, imparts the lethality associated with the full monosomic condition. Adjacent 2 disjunction in man has been further characterised by reviewing the literature.     

The coagulation factor VII regulator is located on 8p23.1

Summary Cytogenetic and coagulation studies have been performed on two patients with different abnormalities of chromosome 8, i.e. del(8p23.1pter) and dup(8q23.1qter). Results confirm the existence of a regulatory mechanism for clotting factor VII on chromosome 8 and define its location to the p23.1p23.2 region.     

Tertiary trisomy (22q11q),47,+der(22),t(11;22)

Summary We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter22q13: : 11q2511qter) in a child with mental retardation, cleft palate, and congenital heart disease resulting from 3: 1 meiotic nondisjunction in a maternal (11;22) translocation carrier. The clinical findings in previously reported cases are reviewed and compared with the features of reported patients with partial trisomy 11q and trisomy 22 syndromes. Half of the ten reported families had additional balanced translocation carriers who may have an increased risk of having a liveborn child with an MCA/MR syndrome, although none have been reported to date.     

A deletion in chromosome 22 can cause digeorge syndrome

Summary An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter20q11 and monosomy 22pter22q11 was found in four individuals belonging to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.     

Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations

Summary A 1-year-old girl with partial trisomy of 11 (q23qter) and 22 (pterq11) is presented. She had severe mental retardation, cleft palate, congenital heart disease, congenital dislocation of the hip, and other anomalies.The extra acrocentric chromosome was identified as der(22),t(11;22) (q23;q11) from a familial translocation and by G-and R-banding methods. The mother and the maternal grandfather were carriers of balanced rcp(11;22) (q23;q11) translocations.The possible relations between phenotypic features and the karyotypes of partial trisomy 11 and 22 are discussed.