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

Giuseppe Calabrese, Paolo Guanciali Franchi, Liborio Stuppia, Rita Mingarelli, Carlo Rossi, Luca Ramenghi, Mario Marino, Elisena Morizio, Rita Peila, Adriano Antonucci, Giandomenico Palka

Research output: Contribution to journalArticle

13 Citations (Scopus)

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 α 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.

Original languageEnglish
Pages (from-to)804-806
Number of pages3
JournalJournal of Medical Genetics
Volume31
Issue number10
Publication statusPublished - Oct 1994

Fingerprint

Ring Chromosomes
Hirschsprung Disease
Newborn Infant
Kidney
Chromosomes, Human, Pair 10
Muscle Hypotonia
Mosaicism
Interphase
Digestion
Fibroblasts
Chromosomes
Lymphocytes
Growth
Chromosome 10 ring

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Calabrese, G., Franchi, P. G., Stuppia, L., Mingarelli, R., Rossi, C., Ramenghi, L., ... Palka, G. (1994). A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. Journal of Medical Genetics, 31(10), 804-806.

A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. / Calabrese, Giuseppe; Franchi, Paolo Guanciali; Stuppia, Liborio; Mingarelli, Rita; Rossi, Carlo; Ramenghi, Luca; Marino, Mario; Morizio, Elisena; Peila, Rita; Antonucci, Adriano; Palka, Giandomenico.

In: Journal of Medical Genetics, Vol. 31, No. 10, 10.1994, p. 804-806.

Research output: Contribution to journalArticle

Calabrese, G, Franchi, PG, Stuppia, L, Mingarelli, R, Rossi, C, Ramenghi, L, Marino, M, Morizio, E, Peila, R, Antonucci, A & Palka, G 1994, 'A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia', Journal of Medical Genetics, vol. 31, no. 10, pp. 804-806.
Calabrese, Giuseppe ; Franchi, Paolo Guanciali ; Stuppia, Liborio ; Mingarelli, Rita ; Rossi, Carlo ; Ramenghi, Luca ; Marino, Mario ; Morizio, Elisena ; Peila, Rita ; Antonucci, Adriano ; Palka, Giandomenico. / A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. In: Journal of Medical Genetics. 1994 ; Vol. 31, No. 10. pp. 804-806.
@article{3ea712512c444a07a7cf25c50d06b4fa,
title = "A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia",
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 α 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.",
author = "Giuseppe Calabrese and Franchi, {Paolo Guanciali} and Liborio Stuppia and Rita Mingarelli and Carlo Rossi and Luca Ramenghi and Mario Marino and Elisena Morizio and Rita Peila and Adriano Antonucci and Giandomenico Palka",
year = "1994",
month = "10",
language = "English",
volume = "31",
pages = "804--806",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
number = "10",

}

TY - JOUR

T1 - A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia

AU - Calabrese, Giuseppe

AU - Franchi, Paolo Guanciali

AU - Stuppia, Liborio

AU - Mingarelli, Rita

AU - Rossi, Carlo

AU - Ramenghi, Luca

AU - Marino, Mario

AU - Morizio, Elisena

AU - Peila, Rita

AU - Antonucci, Adriano

AU - Palka, Giandomenico

PY - 1994/10

Y1 - 1994/10

N2 - 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 α 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.

AB - 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 α 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.

UR - http://www.scopus.com/inward/record.url?scp=0028135127&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028135127&partnerID=8YFLogxK

M3 - Article

VL - 31

SP - 804

EP - 806

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 10

ER -