A boy with 47,X,del(X)(p11→q13::q21→q24),del(Y)(q11)

Summary A patient is described carrying a duplication 4p12pter due to a paternal translocation: 46,XY,t(4;16) (p12;p13). Involvement of chromosome No. 16 and the heterogeneity of the clinical picture in cases with dup (4p) are discussed.Postdoctoral fellow of the Deutsche Forschungsgemeinschaft.     

A newborn child with karyotype 47,XX,+der(12) (12pter→12q12::8q24→8qter),t(8;12) (q24;q12) pat

Summary A case of Meckel or Gruber syndrome is reported, together with a survey of the relevant literature of recent years (1971–1977), in reference to a probably autosomal recessive inheritance of this malformation.     

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).     

Serial duplication of 10 (q21→q22) in a mentally retarded boy with congenital malformations

Summary A boy with congenital malformations and a serial duplication of 10(q21q22) is reported. His clinical picture is compared with that of a previously reported patient with a similar karyotype.     

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3

Summary Uroporphyrinogen III synthase [UROS; hydroxymethylbilane hydro-lyase (cyclizing), EC 4.2.1.75] is the fourth enzyme in the human heme biosynthetic pathway. The recent isolation of the cDNA encoding human UROS facilitated its chromosomal localization. Human UROS sequences were specifically amplified by the polymerase chain reaction (PCR) from genomic DNA of two independent panels of human-rodent somatic cell hybrids. There was 100% concordance for the presence of the human UROS PCR product and human chromosome 10. For each of the other chromosomes, there was 19%–53% discordance with human UROS. The chromosomal assignment was confirmed by Southern hybridization analysis of DNA from somatic cell hybrids with the full-length UROS cDNA. Using human-rodent hybrids containing different portions of human chromosome 10, we assigned the UROS gene to the region 10q25.2 q26.3.     

Un cas de rétinoblastome bilatéral avec monosomie 13 partielle (q12→q14)

Résumé Une fillette légèrement arriérée mentale, et pratiquement non malformée, est atteinte d'un rétinoblastome bilatéral. Son caryotype leucocytaire montre une monosomie 13 partielle par délétion (q12q14). La synthèse de toutes les observations de rétinoblastome avec délétion du chromosome 13, examinées en techniques de bandes, paraît montrer que le point commun en est la délétion de la bande q14. L'hypothèse pathogénique la plus probable fait appel au phénomène de l' «haplo-insuffisance».

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Summary A partial monosomy 13 by interstitial deletion was found in the complement of a girl with mild mental retardation and bilateral retinoblastoma. Break points were at 13q12 and 13q14. After comparison with other known observations of retinoblastoma with deletion of chromosome 13, it is suggested that the deletion common to these patients may be band 13q14. The most likely pathogenic hypothesis seems to be the haplo-insufficiency.

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Partial trisomy 13q21→qter de novo due to a recombinant chromosome rec(13)dup q

Summary A female is described who has a karyotype with an additional distal half of 13q in a recombinant rec(13)dup q chromosome. Since her parents have normal karyotypes, the origin of her karyotype is assumed to be a premeiotic pericentric inversion de novo with crossing-over within the inversion loop at meiosis. By means of various banding techniques, the breaks preceding the rearrangement could be located exactly. The joint between the duplicated segment and the satellites of the receptor chromosome is of special note. The phenotype of the patient stated at the age of 9 months and at the age of 71/2 years was found to be related to the segments involved in the partial trisomy. The clinical features were largely in accordance with previous case reports having an identical extent of the triplicated 13q segment.     

一例带有t(4;13)染色体易位的4q部分三体型(4q25→4qter)男孩

本文报告一例带有t(4;13)染色体易位的4q部分三体型男孩,主诉间歇性肢体痉挛,并有多指畸形,双耳低位及上腭高尖,经外周血淋巴细胞G显带染色体分析,核型为46,XY,-13, der(13),t(4;13)(13pter→13q34∷4q25→4qter)。其母亲核型正常,父亲和伯父核型均为46,XY,t(1;4)(1pter→1q43∷4q25→4qter;4pter→4q25∷1q43→1qter),认为患儿的4q部分三体片段(4q25→4qter)得自父亲。     

Pure monosomy and trisomy 2q24.2→q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations

Summary An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described 2q aneusomic individuals led to the conclusion that a large cleft between first and second toes is a constant feature in monosomy 2q24q31. No other trait could plausible be mapped. Risks of 7.9 to 31.9% for aneusomic children and of 26.3% for abortion were estimated in the present family.     

Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34→7q22

Summary A 1.1-kb cDNA clone for human 2,3-bisphospho-glycerate mutase (BPGM) (EC2.7.5.4) was used to map the structural gene to metaphase chromosomes. In situ hybridization experiments localized the human BPGM gene to chromosome 7 and, more precisely, to region 7q34→7q22.     

Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter→q2200::q3200→qter)

Summary We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal.     

Duplication of the segment q12.2→qter of chromosome 22 due to paternal inversion 22(p13q12.2)

Summary A 1730-g male infant, born at 37 weeks gestation, had multiple congenital anomalies, consisting of microcephaly, hypertelorism, bilateral cleft lip and palate, micrognathia, lowset ears, and cryptorchidism. Chromosome analysis showed a recombinant 22 derived from the paternal inversion (22) (p13q12.2). The proband's karyotype is 46,XY,rec(22),dup q,inv(22)(p13q12.2)pat, which has a duplication of q12.2qter. An identical recombinant has been reported in a female infant in Mexico whose mother was a carrier of the inversion. Similar congenital anomalies present in these two patients demonstrate the phenotype of duplication of the distal long arm 22. This report also documents the occurrence of an identical inversion in two apparently unrelated Mexican families.     

Transposition of 9q34 and 22 (q11→qter) regions has a specific role in chronic myelocytic leukemia

Summary Six cases are reported of variant Ph translocations found among 240 patients with Ph-positive CML. Five cases had a three-chromosome rearrangement involving, in addition to chromosomes 9 and 22, chromosomes 7, 4, 2(two), and 3 respectively, and one case had a two-chromosome rearrangement 22/5. A review of the literature revealed that three- and two-chromosome variant Ph translocations are observed with equal frequency. It is postulated that all variant translocations are indeed three-chromosome rearrangements, that the specific event for the formation of the Ph chromosome is the reciprocal translocation 9/22, and that the transposition of regions 9q34 and 22 (q11qter), plays a major role in the development of CML.     

Bisatellited dicentric chromosome: A report on a case with karyotype 47,XY,+psu dic(22)t(22;22)(22pter→cen→22q11::22q11→22pter)

Summary A 12-year-old boy with mental retardation and congenital anomalies was found to have a supernumerary small marker chromosome. This marker chromosome was proved to be bisatellited and dicentric by G-, C-, R-banding and the silverstaining technique.     

De novo trisomy 4pter→q21

Summary Clinical and cytogenetic findings in an infant girl with multiple congenital anomalies, principally anophthalmia, are presented. The patient's karyotype was 47,XX, +del(4)(pterq21), the largest partial trisomy of chromosome 4 reported. The possible mechanism of the origin of this abnormality is discussed.To whom offprint requests should be sent     

An r(22)(p11→q13) in a moderately mentally retarded girl

Summary An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.     

Retinoblastoma,gross internal malformations,and deletion 13q14→q31

Summary A male patient with an interstitial deletion 13q14q31 is described. Our necropsy findings included a left retinoblastoma and several gross internal malformations. In this paper we reaffirm that band 13q14 is involved in cases of retinoblastoma and we propose, after studying accompanying cases of total or partial long arm trisomies 13, that the loss of specific 13q bands, from 13q14 to 13q31 is responsible for the congenital defects we are describing.     

The gene encoding the large human neurofilament subunit (NF-H) maps to the q121–q131 region on human chromosome 22

Summary Using a rat cDNA probe encoding for the C-terminal textension of the large neurofilament subunit (NF-H), we have assigned, by in situ hybridization, the human NF-H gene to the q121–q131 region of chromosome 22. This localization may have implications in neurological diseases such as meningioma where a recessive locus involved in oncogenesis is located within this region.     

The proα2 (V) collagen gene (COL5A2) maps to 2q14→2q32, syntenic to the proα1 (III) collagen locus (COL3A1)

Summary A recombinant probe specific for the pro2 chain of human Type V collagen has been used for the localization of the corresponding gene (COL5A2) to chromosome 2. Regional mapping by in situ hybridization and analysis of DNA from humanxrodent cell lines indicated that COL5A2 is confined within the segment 2q142q32, thus syntenic to the pro1 (III) collagen gene (COL3A1).     

A case of trisomy 3q21→qter syndrome

Summary An infant with karyotype 46,XY,der(8),t(3;8)(q21;p23) is presented. The presence of trisomy 3q21qter syndrome is suspected on the basis of comparison of the clinical and laboratory findings of this patient with those of cases that have been reported as partial 3q trisomy. The common phenotypic features of this syndrome include growth failure and mental or developmental retardation, hypotonia, persistent lanugo, distorted head, congenital glaucoma, short and upturned nose, prominent maxilla, micrognathia, short, webbed neck, short limbs, retroflexed third and fourth toes, cutaneous syndactyly of the second, third and fourth toes, and elevated galactose-1-phosphate uridyl transferase activity in the red blood cells.