Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.

Abnormalities, Multiple/genetics; Adolescent; Adult; Chromosomes, Human, Pair 13/genetics; Female; Fetal Diseases/genetics; Gestational Age; Humans; Karyotyping; Male; Pregnancy; Prenatal Diagnosis; Ring Chromosomes; Young Adult

Abstract :

[en] The occurrence of mosaic ring chromosome 13 is rare. The mechanism of ring chromosome formation is usually associated with loss of genetic material. We report 2 cases of mosaic ring chromosome 13, resulting in deletion of 13qter. The first patient, a 15 year-old boy, presented a delayed psychomotor development, mental retardation, dysmorphic features and bleeding disorders associated with a de novo terminal 13q34 deletion. The second case was a foetus of 31 weeks with prenatal diagnosis of severe malformation such as holoprosencephaly, congenital cardiac defects, gastro-intestinal abnormalities with intrauterine growth retardation, the molecular analysis showed a de novo deletion encompassing the region 13q31.3-q34.

Disciplines :

Genetics & genetic processes

Author, co-author :

Uwineza, Annette ; Université de Liège - ULiège > CHU - @chu - AD

PIERQUIN, Geneviève ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

GAILLEZ, Stephanie ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

JAMAR, Mauricette ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

CABERG, Jean-Hubert ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

BOURS, Vincent ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Language :

English

Title :

Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.

Publication date :

2013

Journal title :

Genetic Counseling

ISSN :

1015-8146

Publisher :

Éditions Médecine et Hygiène, Switzerland

Volume :

Issue :

Pages :

193-200

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 27 December 2013

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Bibliography

ANDRESEN J.H., AFTIMOS S., DOHERTY E., LOVE D.R., BATTIN M.: 13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction. Acta Paediatr., 2010, 99, 784-786.
BALCI S., YUKSEL KONUK B., ATIK F., OGUZ A.K., ERGUN M.A., BALTACI V., KOSYAKOVA N., LIEHR T.: Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth. Genet. Couns., 2010, 21, 317-324.
BALLARATI L., ROSSI E., BONATI M.T., GIMELLI S., MARASCHIO P., FINELLI P., GIGLIO S., LAPI E., BEDESCHI M.F., GUERNERI S., ARRIGO G., PATRICELLI M.G., MATTINA T., GUZZARDI O., PECILE V., POLICE A., SCARANO G., LARIZZA L., ZUFFARDI O., GIARDINO D.: 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J. Med. Genet., 2007, 44, e60.
BROOKS B.P., MECK J.M., HADDAD B.R., BENDAVID C., BLAIN D., TORETSKY J.A.: Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature. BMC Med. Genet., 2006, 7, 2.
BROWN S., GERSEN S., ANYANE-YEBOA K., WARBURTON D.: Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am. J. Med. Genet., 1993, 45, 52-59.
BROWN S., RUSSO J., CHITAYAT D., WARBURTON D.: The 13q-syndrome: the molecular definition of a critical deletion region in band 13q32. Am. J. Med. Genet., 1995, 57, 859-866.
CETIN Z., MIHCI E., YAKUT S., KARAALI K., LULECI G., KESER I.: Interstitial deletion of 13q22-q32: a case with choanal atresia and mega-cisterna magna and review of the literature. Genet. Couns., 2011, 22, 313-316.
CHILCOTT J.L., RUSSELL G., MUMFORD A.D.: Combined deficiency of factors VII and X: clinical description of two cases and management of spinal surgery. Haemophilia, 2006, 12, 555-558.
GUILHERME R.S., AYRES MELONI V.F., KIM C.A., PELLEGRINO R., TAKENO S.S., SPINNER N.B., CONLIN L.K., CHRISTOFOLINI D.M., KULIKOWSKI L.D., MELARAGNO M.I.: Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med. Genet., 2011, 12, 171
HEWSON M.P., CARTER J.M.: Severe congenital Factor VII deficiency associated with the 13q deletion syndrome. Am. J. Hematol., 2002, 71, 232-233.
HUANG C., YANG Y.F., YIN N., CHEN J.L., WANG J., ZHANG H., TAN Z.P.: Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion. Gene, 2012, 498, 308-310.
KIRCHHOFF M., BISGAARD A.M., STOEVA R., DIMITROV B., GILLESSEN-KAESBACH G., FRYNS J.P., ROSE H., GROZDANOVA L., IVANOV I., KEYMOLEN K., FAGERBERG C., TRANEBJAERG L., SKOVBY F., STEFANOVA M.: Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am. J. Med. Genet. A, 2009, 149A, 894-905.
KUROSAWA H., SUZUMURA H., OKUYA M., FUKUSHIMA K., SUGITA K., FUJIWARA T., MORISHITA E., YOSHIOKA A., TAKAMIYA O., ARISAKA O.: Haemostatic management of surgery for imperforate anus in a patient with 13q deletion syndrome with combined deficiency of factors VII and X. Haemophilia, 2009, 15, 398-400.
LIAO C., FU F, ZHANG L.: Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report. J. Med. Case Rep., 2011, 5, 99.
QIAO Y., TYSON C., HRYNCHAK M., LOPEZ-RANGEL E., HILDEBRAND J., MARTELL S., FAWCETT C., KASMARA L., CALLI K., HARVARD C., LIU X., HOLDEN J.J., LEWIS S.M., RAJCAN-SEPAROVIC E.: Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability. Clin. Genet., 2013, 83, 145-154.
QUELIN C., BENDAVID C., DUBOURG C., DE LA ROCHEBROCHARD C., LUCAS J., HENRY C., JAILLARD S., LOGET P., LOEUILLET L., LACOMBE D., RIVAL J.M., DAVID V., ODENT S., PASQUIER L.: Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur. J. Med. Genet., 2009, 52, 41-46.
TOSCA L., BRISSET S., PETIT F.M., METAY C., LATOUR S., LAUTIER B., LEBAS A., DRUART L., PICONE O., MAS A.E., PREVOT S., TARDIEU M., GOOSSENS M., TACHDJIAN G.: Genotype-phenotype correlation in 13q13.3-q21.3 deletion. Eur. J Med. Genet., 2011, 54, e489-e494.
WALCZAK-SZTULPA J., WISNIEWSKA M., LATOS-BIELENSKA A., LINNE M., KELBOVA C., BELITZ B., PFEIFFER L., KALSCHEUER V., ERDOGAN F., KUSS A.W., ROPERS H.H., ULLMANN R., TZSCHACH A.: Chromosome deletions in 13q33-34: report of four patients and review of the literature. Am. J Med. Genet. A, 2008, 146, 337-342.