A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

American Journal of Medical Genetics, Part A

Volumn 146, Issue 3, 2008, Pages 354-360

  Nowaczyk, Malgorzata J M ^a   Carter, Melissa T ^b   Xu, Jie ^a   Huggins, Marlene ^b   Raca, Gordana ^c   Das, Soma ^d   Martin, Christa Lese ^c,d   Schwartz, Stuart ^d   Rosenfield, Robert ^d   Waggoner, Darrel J ^d  

^a MCMASTER UNIVERSITY   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

Author keywords

Chromosome 6q deletion; Growth failure; Imprinting; Uniparental disomy

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME DELETION; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; EYELID; FACE MALFORMATION; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION; GENE MAPPING; HEMIZYGOSITY; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; JOINT LAXITY; MALE; MOUTH; ORBIT; PALPEBRAL FISSURE; PHILTRUM; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; THORAX MALFORMATION; CHILD; CHROMOSOME 6; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; FATHER; GENETICS; SYNDROME;

CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 6; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FACIES; FATHERS; FEMALE; FETAL GROWTH RETARDATION; HUMANS; INFANT; MALE; SYNDROME;

EID: 38949194351     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32144     Document Type: Article

References (24)

1. Arima T, Drewell RA, Oshimura M, Wake N, Surani MA. 2000. A novel imprinted gene HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC. Genomics 67:248-255.
2. Bartolomei MS, Tilghman SM. 1997. Genomic imprinting in mammals. Annu Rev Genet 31:493-525.
3. Bertini V, De Vito G, Costa R, Simi P, Valetto A. 2006. Isolated 6q terminal deletions: An emerging new syndrome. Am J Med Genet Part A 140A:74-81.
4. Brownell R. 2000. Expressive one-word picture vocabulary test. 3rd edition. Novato, California: Academic Therapy Publications.
5. Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE. 2000. Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. Am J Hum Genet 67:1586-1591.
6. Diatloff-Zito C, Nicole A, Marcelin G, Labit H, Marquis E, Bellame-Chantelot C, Robert JJ. 2007. Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: New hypothesis raised by the finding of a unique case with hemizygous deletion in the critical region. J Med Genet 44:31-37.
7. Dunn LM, Dunn LM. 1997. Peabody picture vocabulary test - III. Circle Pines, MN: American Guidance Service.
8. Eash D, Waggoner D, Chung J, Stevenson D, Martin C. 2005. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet 67:396-403.
9. Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. 2006. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases. Epilepsia 47:830-838.
10. Evers LJM, Schrander-Stumpel CTRM, Engelen JJM, Hoorntje TM, Pulles-Heintzberger CFM, Schrander JJP, Albrechts JCM, Peters J, Fryns JP. 1996. Deletion of the long arm of chromosome 6: Two new patients and literature review. Clin Genet 50:138-144.
11. Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. 1997. New insights into the phenotypes of 6q deletions. Am J Med Genet 70:377-386.
12. Kamiya M, Judson H, Okazaki Y, Kusakabe M, Muramatsu M, Takada S, Takagi N, Arima T, Wake N, Kamimura K, Satomura K, Hermann R, Bonthron DT, Hayashizaki Y. 2000. The cell cycle control gene ZAC/PLAG1 is imprinted - A strong candidate for transient neonatal diabetes. Hum Mol Genet 9:453-460.
13. Knight SJL, Lese CM, Precht K, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J. 2000. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 67:320-332.
14. Kumar A, Cassidy S, Romero L, Schwartz S. 1999. Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl. Am J Med Genet 86:227-231.
15. Louvi A, Accili D, Efstratiadis A. 1997. Growth-promoting interaction of IGF-II with the insulin receptor during mouse embryonic development. Dev Biol 189:33-48.
16. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. 2002. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet 39:734-740.
17. McLeod DR, Fowlow SB, Robertson A, Samcoe D, Burgess I, Hoo JJ. 1990. Chromosome 6q deletions: A report of two additional cases and a review of the literature. Am J Med Genet 35:79-84.
18. Spiro RP, Christian SL, Ledbetter DH, New MI, Wilson RC, Roizen N, Rosenfield RL. 1999. Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. Ped Res 46:510-513.
19. Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS. 1999. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: Three cases studied using FISH. Am J Med Genet 87:17-22.
20. Temple IK, Gardner RJ, Robinson DO, Kibirige MS, Ferguson AW, Baum JD, Barber JC, James RS, Shield JP. 1996. Further evidence for an imprinted gene for neonatal diabetes localized to chromosome 6q 22-23. Hum Mol Genet 5:1117-1121.
21. Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. 1992. Monosomy 6q: Report on four new cases. Clin Genet 41:159-166.
22. van den Berg-Loonen EM, Savelkoul P, van Hooff H, van Eede P, Riesewijk A, Geraedts J. 1996. Uniparental maternal disomy 6 in a renal transplant patient. Human Immunol 45:46-51.
23. Woods KA, Camacho-Hubner C, Savage MO, Clark AJL. 1996. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 335:1363-1367.
24. Woods KA, van Helvoirt M, OngKK, Mohn A, Levy J, de Zegher F, Dunger DB. 2002. The somatotropic axis in short children born small for gestational age: Relation to insulin resistance. Pediatr Res 51:76-80.