Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development, craniofacial defects, short neck, heart and lung congenital defects, and autistic features. We report on a girl with 46,XX.ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature.
Casas KA, Mononen TK, Mikail CN, et al. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A. 2004;130:331-339.
2.
Coldwell JG, Gucsavas M., Say B., Carpenter NJAn infant with karyotype 46,XX, del(2)(q37) and congenital malformations . Hum Genet Suppl. 1992;51:A301.
3.
Conrad B., Dewald G., Christensen E., et al. Clinical phenotype associated with terminal 2q37 deletion. Clin Genet. 1995;48:134-139.
4.
Ghaziuddin M. , Burmeister M.Deletion of chromosome 2q37 and autism: a distinct subtype? J Autism Dev Disord. 1999 ;29: 259-263.
5.
Lukusa T., Vermeesch JR, Holvoet M., Fryns JP, Devriendt K.Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. Genet Couns. 2004; 15:293-301.
6.
Sherr EH, Owen R., Albertson DG, et al. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 2005;65:1496-1498.
7.
Smith M., Escamilla JR, Filipek P., et al. Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and new markers for deletion screening by PCR. Cytogenet Cell Genet. 2001;94:15-22.
8.
Gorski JL, Cox BA, Kyine M., Uhlmann W., Glover TWTerminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37). Am J Med Genet. 1989;32:350-352.
9.
Batstone PJ, Simpson S., Bonthron DT, et al. Effective monosomy or trisomy of chromosomes band 2q37.3 due to the umbalanced segregation of a 2;11 translocation. Am J Med Genet. 2003;118A: 241-246.
10.
Bijlsma EK, Aalfs CM, Sluitjer S., et al. Familiar cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet. 1999;36:604-609.
11.
Chaabouni M. , Le Merrer M., Raoul O., et al. Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region . Eur J Med Genet. 2006;49:255-263.
12.
Fisher AM, Ellis KH, Browne CE, et al. Small terminal deletions of the long arm of chromosome 2: two new cases. Am J Med Genet. 1994;53:366-369.
13.
Lehman NL, Zaleski DH, Sanger WG, Adickes EDHoloprosencephaly associated with an apparent isolated 2q37.1 → 2q37.3 deletion. Am J Med Genet. 2001;100:179-181.
14.
Lin S.-P, Petty EM, Gibson LH, et al. Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. Am J Med Genet. 1992 ;44:500-502.
15.
Phelan MC, Rogers RC, Clakson KB, et al. Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am J Med Genet. 1995 ;58:1-7.
16.
Power MM, James RS, Barber JCK, et al. RDCI, the vasoactive intestinal peptide receptor candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. J Med Genet. 1997;34:287-290.
17.
Rauch A., Pfeiffer RA, Trautmann U.Deletion or triplication of the α 3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collage-related disorders . Clin Genet. 1996;49:279-285.
18.
Reddy KS, Flannery D., Farrer RJMicrodeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Am J Med Genet.1999;84:460-468.
19.
van Karnebeek CDM , Koevoets C., Sluijter S., et al. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J Med Genet . 2002;39:546-553.
20.
Viot-Szoboszlai G., Amiel J., Doz F., et al. Wilms' tumor and gonadal dysgenesis in child with the 2q37.1 deletion syndrome. Clin Genet. 1998;53:278-280.
21.
Wang T.-H, Johnston K., Hsieh C.-L, Dennery PATerminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Am J Med Genet. 1994;49: 399-401.
22.
Wilson LC, Leverton K., Oude Luttikhuis MEM, et al. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet . 1995;56:400-407.
23.
Wolff DJ, Clifton K., Karr C., Charles J.Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion. Genet Med. 2002 ;4:10-14.
24.
Wassink TH, Piven J., Vieland VJ, et al. Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet B Neuropsychiatr Genet . 2005;136:36-44.
25.
Waters ST, Lewandoski M.A threshold requirement for Gbx2 levels in hindbrain development. Development. 2006;133:1991-2000.
26.
Imgsac.A genome wide screen for autism: strong evidence for linkage to chromosome 2q, 7q and 16p. Am J Hum Genet. 2001;69:570-581.
27.
Yonekawa Y. , Harada A., Okada Y., et al. Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice. J Cell Biol. 1998;141:431-441.
28.
Koyano-Nakagawa N., Kim J., Anderson D., Kintner C.Hes6 acts in a positive feedback loop with the neurogenins to promote neuronal differentiation . Development . 2000;127:4203-4216.
29.
Gratton MO, Torban E., Jasmin SB, et al. Hes6 promotes cortical neurogenesis and inhibits Hes1 transcription repression activity by multiple mechanisms. Mol Cell Biol . 2003;23:6922-6935.
30.
Raddatz R., Wilson AE, Artymyshyn R., et al. Identification and characterization of two neuromedin U receptors differentially expressed in peripheral tissues and the central nervous system . J Biol Chem. 2000;275:32452-32459.
31.
Brighton PJ , Szekeres PG, Gary BWNeuromedin U and its receptors: structure, function, and physiological roles. Pharmacol Rev. 2004;56:231-248.
