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Literature DB >> 511137

Ring chromosome 10 associated with multiple congenital malformations.

G Simoni, F Rossella, L Dalprà, G Visconti, C Piria-Schwarz.

Abstract

A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also attempted.

Entities: Disease

Mesh：

Year: 1979 PMID： 511137 DOI： 10.1007/bf00287164

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

8 in total

1. Mental retardation and congenital malformations associated with a ring chromosome 6.

Authors: K Fried; M Rosenblatt; G Mundel; R Krikler
Journal: Clin Genet Date: 1975-03 Impact factor: 4.438

2. Mental retardation and congenital malformations associated with a ring chromosome 9.

Authors: S Nakajima; M Yanagisawa; S Kamoshita; Y Nakagome
Journal: Hum Genet Date: 1976-06-29 Impact factor: 4.132

3. [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].

Authors: R A Pfeiffer; H G Lenard
Journal: Klin Padiatr Date: 1973-05 Impact factor: 1.349

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 11 chromosome (46,xx,r11(p15q25)).

Authors: M Valente; H Muller; R S Sparkes
Journal: Hum Genet Date: 1977-05-10 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 7 with variable phenotypic expression.

Authors: E H Zackai; W R Breg
Journal: Cytogenet Cell Genet Date: 1973

8 in total

7 in total

Review 7. 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

7 in total

Ring chromosome 10 associated with multiple congenital malformations.

1. Mental retardation and congenital malformations associated with a ring chromosome 6.

2. Mental retardation and congenital malformations associated with a ring chromosome 9.

3. [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].

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

5. Ring 11 chromosome (46,xx,r11(p15q25)).

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 7 with variable phenotypic expression.

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

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. Ring chromosome 10 and its clinical features.

5. Partial monosomy of chromosome 10 short arms.

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

Review 7. Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.