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Literature DB >> 7837258

A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.

G Calabrese¹, P G Franchi, L Stuppia, R Mingarelli, C Rossi, L Ramenghi, M Marino, E Morizio, R Peila, A Antonucci.

Abstract

A newborn infant is reported who had aganglionic megacolon, renal hypoplasia, severe growth retardation, generalised hypotonia, and various dysmorphic features. Chromosome analysis of lymphocytes and fibroblasts showed a ring chromosome 10 with breakpoints at p13-15 and q26. AluI digestion showed that the ring chromosome was monocentric. FISH with an alpha satellite probe specific for chromosome 10 showed one signal only in about 20% of interphase nuclei. It is suggested that aganglionic megacolon could result from dynamic somatic mosaicism owing to loss of the ring chromosome.

Entities: Disease Species

Mesh：

Year: 1994 PMID： 7837258 PMCID： PMC1050128 DOI： 10.1136/jmg.31.10.804

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

24 in total

1. High resolution of human chromosomes.

Authors: J J Yunis
Journal: Science Date: 1976-03-26 Impact factor: 47.728

2. Activation of a novel human transforming gene, ret, by DNA rearrangement.

Authors: M Takahashi; J Ritz; G M Cooper
Journal: Cell Date: 1985-09 Impact factor: 41.582

Review 3. Structure and function of telomeres.

Authors: V A Zakian
Journal: Annu Rev Genet Date: 1989 Impact factor: 16.830

4. Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome.

Authors: J P Fryns; K De Boeck; J Jaeken; H van den Berghe
Journal: Hum Genet Date: 1978-08-31 Impact factor: 4.132

5. Ring chromosome 10 associated with multiple congenital malformations.

Authors: G Simoni; F Rossella; L Dalprà; G Visconti; C Piria-Schwarz
Journal: Hum Genet Date: 1979-10-01 Impact factor: 4.132

6. Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.

Authors: S Lansky; W Daniel; K Fleiszar
Journal: J Med Genet Date: 1977-02 Impact factor: 6.318

7. Ring 10 chromosome: 46,XX,r10(p15q26).

Authors: R S Sparkes; S M Ling; H Muller
Journal: Hum Genet Date: 1978-09-19 Impact factor: 4.132

8. Ring chromosome 10:46,XX,r(10)(p15 leads to q26).

Authors: R Tsukino; N Tsuda; T Dezawa; T Ishii; M Koike
Journal: J Med Genet Date: 1980-04 Impact factor: 6.318

9. The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A).

Authors: R Donghi; G Sozzi; M A Pierotti; I Biunno; M Miozzo; A Fusco; M Grieco; M Santoro; G Vecchio; N K Spurr
Journal: Oncogene Date: 1989-04 Impact factor: 9.867

Review 5. Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.

Authors: Jacopo Pruccoli; Claudio Graziano; Chiara Locatelli; Lucia Maltoni; Hodman Ahmed Sheikh Maye; Duccio Maria Cordelli
Journal: Genes (Basel) Date: 2021-09-26 Impact factor: 4.096

5 in total

A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.

1. High resolution of human chromosomes.

2. Activation of a novel human transforming gene, ret, by DNA rearrangement.

Review 3. Structure and function of telomeres.

4. Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome.

5. Ring chromosome 10 associated with multiple congenital malformations.

6. Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.

7. Ring 10 chromosome: 46,XX,r10(p15q26).

8. Ring chromosome 10:46,XX,r(10)(p15 leads to q26).

9. The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A).

10. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

Review 1. Autosomal ring chromosomes in human genetic disorders.

2. Chromosome r(10)(p15.3q26.12) in a newborn child: case report.

Review 3. Ring chromosome 10: report on two patients and review of the literature.

4. Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

Review 5. Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.