Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review

[en] The high resolution G-bands (850 bands) karyotype have made it possible to identify small chromosome anomalies (5 megabases) which are now microscopically visible. New techniques have been improved, such as the Fluorescent in situ hybridization (FISH) with subtelomeric probes, which can be employed to detect cryptic chromosome alterations not visible microscopically. We present three cases which had been remitted for a high resolution karyotype. The high resolution G-band karyotype and the FISH techniques led us to conclude that the three cases were carriers of a similar subtle chromosomal alteration. Case I is a new born female with developmental and psychomotor delay, hypotonia, and long limbs with arachnodactily. A high resolution G-band karyotype showed an abnormal chromosome 22. FISH techniques confirmed a der(22)t(12;22)(q24.31;q13.3). Case II is a 12-year-old girl, with growth retardation, long shaped face with thick eyebrows, smooth philtrum, and thin upper lip with severe mental retardation (still no language), with a phenotype very similar to that of his sister: long shaped face, thick eyebrows, smooth philtrum, and thin upper lip. A high resolution G-band karyotype also showed in Case II and III an abnormal chromosome 22, studied by FISH techniques which confirmed a der(22)t(12;-22)(q24.3; q13.3) in both cases. (C) 2003 Wiley-Liss, Inc.

Disciplines :

Genetics & genetic processes

Author, co-author :

Rodriguez, L.

Guardia, N. M.

Herens, Christian ; Centre Hospitalier Universitaire de Liège - CHU > PLAN COS

Jamar, Michelle ; Centre Hospitalier Universitaire de Liège - CHU > HOPITAL DE JOUR ONCOLOGIQUE SART TILMAN

Verloes, Alain ; Université de Liège - ULiège > Génétique générale et humaine

Lopez, F.

Munoz, J. S.

Martinez-Frias, M. L.

Language :

English

Title :

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review

Publication date :

01 October 2003

Journal title :

American Journal of Medical Genetics. Part A

ISSN :

1552-4825

eISSN :

1552-4833

Publisher :

Wiley Liss, Inc., New York, United States - New York

Volume :

122A

Issue :

Pages :

119-124

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 11 February 2011

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Bibliography

Anderlid B, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjold M. 2002. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 107:275-284.
Bacino CA, Kashork CD, Davino NA, Shaffer LG. 2000. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet 92:250-255.
Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland G, Thompson E, Thompson P, Woollatt E, Haan E. 2002. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107:285-293.
Ballif BC, Kashork CD, Shaffer LG. 2000. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 67:1356-1359.
Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Whithers S, Quercia N, Teebi A, Teshima I. 2002. Detecting rearrangements in children using subtelomeric FISH and SKY. Am J Med Genet 107:267-274.
De Vries BBA, White SM, Knight SJL, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OWJ, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. 2001. Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J Med Genet 38:145-150.
Doheny KF, Mc Dermid HE, Harum K, Thomas GH, Raymond GV. 1997. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients. J Med Genet 34:640-644.
Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. 1995. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9:132-40.
Goizet C, Excoffier E, Taine L, Taupiac E, El moneim A, Arveiler B, Bouvard M, Lacombe D. 2000. Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH. Am J Med Genet 96:839-844.
Hemming L, Brown R. 1979. Partial trisomy 12q associated with a familial translocation. Clin Genet 16:25-28.
Herman Ge, Greenberg F, Ledbetter DH. 1988. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del (22q). Am J Med Genet 19:909-915.
Hobolth N, Jacobsen P, Mikkelsen M. 1974. Partial trisomy in a mentally retarded boy and translocation (12;21) in his mother. J Med Genet 11:299-303.
Joyce CD, Dennis NR, Cooper S, Browne CE. 2001. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum Genet 109(4):440-451.
Kirschenbaum G, Chmura M, Rhone DP. 1988. Long arm deletion of chromosome 22. J Med Genet 25:780.
Knight SJL, Flint J. 2000. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 37:401-409.
Knight SJL, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-81.
Koiffman CP, Gonzalez CH, Vianna-Morgante AM, Kim CA, Odone-Filho V, Wajntal A. 1995. Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. Am J Med Genet 58:46-49.
McCorquodale MM, Rolf J, Ruppert ES, Kurczynski TW, Kolacki P. 1986. Duplication (12q) syndrome in female cousins, resulting from maternal (11;12)(p15.5;q24.2) translocations. Am J Med Genet 24:613-622.
Melnyk AR, Weiss L, Van Dyke DL, Jarvi P. 1981. Malformation syndrome of duplication 12q24.1-qter. Am J Med Genet 10:357-365.
Narahara K, Takahashi Y, Murakami M, Tsuji K, Yokoyama Y, Murakami R, Nimomiya S. 1992. Terminal 22q deletion associated with a partial deficiency of arylsulfatasa. Am J Med Genet 29:432-433.
Nesslinger NJ, Gorski JL, Kurezynski TW, Shapira SK, Siege-Bartelt J, Dumanski JP, Cullen RF, French BN, McDermid HE. 1994. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 54:464-472.
Phelan MC, Rogers RC, Stevenson RE. 1988. A de novo terminal deletion of 22q. Am J Hum Genet 43:A118.
Phelan MC, Thomas GR, Saul RA, Rogers C, Taylor HA, Wenger DA, McDermid HE. 1992. Cytogenetics, biochemical, and molecular analyses of a 22q13 deletion. Am J Med Genet 43:872-876.
Prasad C, Chodirker BN, Lee C, Dawson AK, Jocelyn LJ, Chudley AE. 1999. 22q13 deletion syndrome: A genetic basis for neurobehavioral disorders? Genet Med 1:60.
Pratt NR, Bulugahapitiya DTD. 1983. Partial trisomy 12q: A clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q. J Med Genet 20:86-89.
Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, Christian SL, Kittikamrom K, Ledbetter DH. 1998. Two 22q telomere deletions serendipitously detected by FISH. J Med Genet 35:939-942.
Roberts SH, Mattina T, Laurence KM, Sorge G, Pavone L. 1981. Partial trisomy 12q: Report of a case and review. J Med Genet 18:470-473.
Romain DR, Goldsmith J, Cairney H, Columbano-Green LM, Smythe RH, Parfitt RG. 1990. Partial monosomy for chromosome 22 in a patient with del(22)(pter-q13.1::q13.33-qter). J Med Genet 27:588-589.
Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli FD, Bonaglia MC, Bedeschi MF, Borgatti R. 2001. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 38:417-420.
Shaffer LG. 1999. Caution: Telomere crossing. Am J Med Genet 87:278-80.
Tajara EH, Varella-Garcia M, Gusson ACT. 1985. Partial trisomy 12q24.31-qter. J Med Genet 22:73-76.
Watt JL, Olson LA, Johnston AW, Ross HS, Couzin DA, Stephen GS. 1985. A familial pericéntrica inversion of chromosome 22 with a recombinant subject illustrating a "pure" partial monosomy syndrome. J Med Genet 22:283-287.
Zabel B, Baumann W. 1981. Partial trisomy 12q. J Med Genet 18:144-157.
Zwaigenbaum L, Siegel-Bartelt J, Teshima I, Ho C. 1990. Two patients with 22q13 deletions have similar face and developmental patterns. Am J Hum Genet 47:A45.