Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

Case Reports

. 2005 Jul;14(3):127-132.

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

Elisabetta Tabolacci¹, Marcella Zollino, Rosetta Lecce, Eugenio Sangiorgi, Fiorella Gurrieri, Vincenzo Leuzzi, John M Opitz, Giovanni Neri

Affiliations

Affiliation

¹ Institute of Medical Genetics, Catholic University, Rome, Italy Department of Neurological and Psychiatric Sciences, University of Rome 'La Sapienza', Italy Pediatrics, Human Genetics, Obstetrics and Ginecology, University of Utah, Salt Lake City, Utah.

PMID: 15930901

Case Reports

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

Elisabetta Tabolacci et al. Clin Dysmorphol. 2005 Jul.

. 2005 Jul;14(3):127-132.

Authors

Elisabetta Tabolacci¹, Marcella Zollino, Rosetta Lecce, Eugenio Sangiorgi, Fiorella Gurrieri, Vincenzo Leuzzi, John M Opitz, Giovanni Neri

Affiliation

¹ Institute of Medical Genetics, Catholic University, Rome, Italy Department of Neurological and Psychiatric Sciences, University of Rome 'La Sapienza', Italy Pediatrics, Human Genetics, Obstetrics and Ginecology, University of Utah, Salt Lake City, Utah.

PMID: 15930901

Abstract

We report on two brothers with moderate-to-severe mental retardation, severe macrocephaly, obesity, characteristic face, big hands and feet, advanced bone age and brain abnormalities, including frontal cortical atrophy. These two boys resembled the two brothers described by , two maternal cousins subsequently reported by and a Brazilian boy described by . Upon further investigation, we detected a cryptic subtelomeric deletion of chromosome region 22q13, not present in either parent and probably due to a maternal germinal mosaicism. Thus, we describe the first familial case of 22q13 deletion and recommend that patients with a phenotype suggestive of the so-called Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion.

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References

1. Anderlid BM, Schoumans J, Anneren G, Tapia-Paez I, Dumanski J, Blennow E, et al. 2002. FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet 110:439–443.
1. Atkin JF, Flaitz K, Patil S, Smith W 1985. A new X-linked mental retardation syndrome. Am J Med Genet 21:697–705.
1. Baraitser M, Reardon W, Vijeratnam S 1995. Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. Am J Med Genet 57:380–384.
1. Castro NHC, Stocco dos Santos RC, Nelson R, Becak W, Hane B, Lindsey CJ, et al. 2003. Shashi XLMR syndrome: Report of a second family. Am J Med Genet 118:49–51.
1. Chiurazzi P, Tabolacci E, Neri G 2004. X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Crit Rev Clin Lab Sci 41:117–158.

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[1] Anderlid BM, Schoumans J, Anneren G, Tapia-Paez I, Dumanski J, Blennow E, et al. 2002. FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet 110:439–443.

[2] Anderlid BM, Schoumans J, Anneren G, Tapia-Paez I, Dumanski J, Blennow E, et al. 2002. FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet 110:439–443.

[3] Atkin JF, Flaitz K, Patil S, Smith W 1985. A new X-linked mental retardation syndrome. Am J Med Genet 21:697–705.

[4] Atkin JF, Flaitz K, Patil S, Smith W 1985. A new X-linked mental retardation syndrome. Am J Med Genet 21:697–705.

[5] Baraitser M, Reardon W, Vijeratnam S 1995. Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. Am J Med Genet 57:380–384.

[6] Baraitser M, Reardon W, Vijeratnam S 1995. Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. Am J Med Genet 57:380–384.

[7] Castro NHC, Stocco dos Santos RC, Nelson R, Becak W, Hane B, Lindsey CJ, et al. 2003. Shashi XLMR syndrome: Report of a second family. Am J Med Genet 118:49–51.

[8] Castro NHC, Stocco dos Santos RC, Nelson R, Becak W, Hane B, Lindsey CJ, et al. 2003. Shashi XLMR syndrome: Report of a second family. Am J Med Genet 118:49–51.

[9] Chiurazzi P, Tabolacci E, Neri G 2004. X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Crit Rev Clin Lab Sci 41:117–158.

[10] Chiurazzi P, Tabolacci E, Neri G 2004. X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Crit Rev Clin Lab Sci 41:117–158.

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Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

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Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

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