“understanding adam” multiple reciprocal translocations: Complex case presentation

Journal of Perinatal and Neonatal Nursing

Volumn 23, Issue 2, 2009, Pages 150-156

  Linder, Carie E ^a   Lu, Xianglan ^a   Kim, Young Mi ^b   Li, Shibo ^b   Pineda, Jose ^b  

^a INTEGRIS BAPTIST MEDICAL CENTER   (United States)

^b UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

Author keywords

Balanced translocation; Bilateral cleft; Bilateral cleft palate; Chromosomes; Congenital cutis aplasia; Dandy Walker; Genetics; Malformation; Multiple translocations; Neonatal nurse practitioner

Indexed keywords

ACROCALLOSAL SYNDROME; CASE REPORT; CHROMOSOME 3; CHROMOSOME 4; CHROMOSOME 6; CHROMOSOME 8; CHROMOSOME 9; CHROMOSOME PAINTING; CLEFT LIP; CLEFT PALATE; CONGENITAL MALFORMATION; DANDY WALKER SYNDROME; EAR; ECTODERMAL DYSPLASIA; EYE MALFORMATION; GENE TRANSLOCATION; GENETIC COUNSELING; GENETICS; HUMAN; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; NEWBORN INTENSIVE CARE; NURSING; NURSING ASSESSMENT; PRENATAL DEVELOPMENT; REVIEW;

ABNORMALITIES, MULTIPLE; ACROCALLOSAL SYNDROME; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 8; CHROMOSOMES, HUMAN, PAIR 9; CLEFT LIP; CLEFT PALATE; DANDY-WALKER SYNDROME; EAR; ECTODERMAL DYSPLASIA; EYE ABNORMALITIES; GENETIC COUNSELING; HUMANS; INFANT, NEWBORN; INTENSIVE CARE, NEONATAL; MALE; NURSING ASSESSMENT; TRANSLOCATION, GENETIC;

EID: 68949149193     PISSN: 08932190     EISSN: 15505073     Source Type: Journal    
DOI: 10.1097/JPN.0b013e3181a23dfc     Document Type: Article

References (27)

1. Jones KL. Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: Elsevier Saunders; 2006.
2. Raju TN, Higgins RD, Stark AR, Leveno KJ. Optimizing care and outcome for late-preterm (near-term) infants: a summary of the workshop sponsored by the National Institute of Child Health and Human Development. Pediatrics. 2006;118:1207-1214.
3. MacDonald MG, Mullett MD, Seshia MM. Avery's Neonatology: Pathophysiology and Management of the Newborn. 6th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2005.
4. Sadler TW. Langman's Medical Embryology. 10th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006.
5. Genoma. Preimplantation genetics. Accessed April 21, 2008.
6. Genetic Home Reference. Translocation. Published 2008. Accessed March 3, 2008.
7. Lashley FR. Clinical Genetics in Nursing Practice. 3rd ed. New York, NY: Springer Publishing Company; 2005.
8. Reproductive Genetics Institute. Preimplantation genetic testing for chromosome translocation. Published 2008. Accessed March 3, 2008.
9. Hall JG. Chromosomal clinical abnormalities. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson's Textbook of Pediatrics. 17th ed., Philadelphia, PA: Saunders; 2004:328-391.
10. Shaffer LG, Spikes AS, Macha M, Dunn R. Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report. J Reproduct Med. 1996;41:367-371.
11. Martin RJ, Fanaroff AA, Walsh MC. Neonatal Perinatal Medicine: Disease of the Fetus and Infant. 8th ed. Philadelphia, PA: Mosby Elsevier; 2006.
12. Furdon SA, Clark DA. Scalp hair characteristics in the newborn infant. Adv Neonatal Care. 2003;3:286-296.
13. Oliveira RS, Juca CE, Lins-Neto AL, Rego MA, Farina J, Machado HR. Aplasia cutis congenita of the scalp: is there a better treatment strategy? Childs Nerv Syst. 2006;22:1072-1079.
14. Carinci C, Pezzetti F, Scapoli L, et al. Recent developments in oral facial cleft genetics. J Craniofac Surg. 2003;14:130-143.
15. Tolarova MM, HeeSoo O. Cleft lip and palate. Published 2006. Accessed April 21, 2008.
16. March of Dimes. Quick reference and fact sheets: cleft lip and cleft palate. Published 2008. Accessed April 26, 2008.
17. Vialard F, Robyr R, Hillion Y, Molina Gomes D, Selva J, Ville Y. Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. Prenat Diagn. 2005;25:311-313.
18. Center for Cerebella Malformations. Dandy-Walker syndrome. Published 2008. Accessed April 26, 2008.
19. Menkes JH, Sarnat HB, Maria BL. Child Neurology. 7th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006.
20. Incesu L, Khosla A. Dandy-Walker malformation. Published 2008. Accessed March 30, 2008.
21. National Institute of Health. Dandy-Walker syndrome. Published 2008. Accessed April 26, 2008.
22. Imataka G, Yamanouchi H, Arisaka O. Dandy-Walker syndrome and chromosomal abnormalities. Congenit Anom. 2007;47:113-118.
23. Aribandi M. Agenesis corpus callosum. Published 2008. Accessed December 9, 2008.
24. National Institute of Neurological Disorders and Stroke. Agenesis of the corpus callosum. Published 2007. Accessed March 30, 2008.
25. Rios A, Furdon, S, Adams D, Clark D. Recognizing the clinical features of trisomy 13 syndrome. Adv Neonatal Care. 2004;4:332-343.
26. Baumann-Holzle R, Maffezzoni M, Bucher HU. A framework for ethical decision making in neonatal intensive care. Acta Paediatr. 2005;94:1777-1783.
27. De Gregori M, Ciccone R, Magini P, et al. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007;44:750-762.