Increased nuchal translucency thickness: A marker for chromosomal and genetic disorders in both offspring and parents [3]

Ultrasound in Obstetrics and Gynecology

Volumn 26, Issue 7, 2005, Pages 793-794

  Van Huizen, M E ^a   Pighetti, M ^a   Bijlsma, E K ^a   Knegt, A C ^a   Bilardo, C M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNIOCENTESIS; CASE REPORT; CHROMOSOME DISORDER; CLINICAL FEATURE; FEMALE; FETUS ECHOGRAPHY; GENETIC DISORDER; HUMAN; KARYOTYPE; KLINEFELTER SYNDROME; LETTER; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PARENT; PREGNANCY; PRIORITY JOURNAL; PROGENY;

ADULT; DISEASES IN TWINS; FEMALE; FETAL DISEASES; GENETIC DISEASES, INBORN; HUMANS; INFANT, NEWBORN; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY COMPLICATIONS; ULTRASONOGRAPHY, PRENATAL;

EID: 29144514507     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1002/uog.2642     Document Type: Letter

References (10)

1. Allanson JE. Noonan syndrome. J Med Genet 1987; 24: 9-13.
2. Noonan JA. An update and review for the primary paediatrician. Clin Pediatr 1994; 33: 548-555.
3. Sarimski K. Developmental and behavioural phenotype in Noonan syndrome? Genet Couns 2000; 11: 383-390.
4. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 1994; 8: 357-360.
5. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465-468.
6. Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, Yagel S, Frydman M. Noonan syndrome: a cryptic condition in early gestation. Am J Med Genet 2000; 92: 159-165.
7. Bilardo CM, Pajkrt E, de Graaf I, Mol BW, Bleker OP. Outcome of fetuses with enlarged nuchal translucency and normal karyotype. Ultrasound Obstet Gynecol 1998; 11: 401-406.
8. Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001; 18: 9-17.
9. Donnenfeld AE, Nazir MA, Sindoni F, Librizzi RJ. Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome. Am J Genet 1991; 39: 461-465.
10. Sebire NJ, Snijders RJM, Brown R, Southall T, Nicolaides KH. Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeks. Prenat Diagn 1998; 18: 581-584.