Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant

Archives of Pathology and Laboratory Medicine

Volumn 124, Issue 6, 2000, Pages 880-882

  Yamanaka, Shoji ^a   Tanaka, Yukichi ^a   Kawataki, Motoyoshi ^a   Ijiri, Rieko ^a   Imaizumi, Kiyoshi ^a   Kurahashi, Hiroki ^b  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; DIGEORGE SYNDROME; HISTOPATHOLOGY; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; INTESTINE ATRESIA; JEJUNUM MUCOSA; MALE; NEWBORN; PULMONARY ARTERY ANEURYSM; PULMONARY HYPERTENSION; VELOCARDIOFACIAL SYNDROME;

ANEURYSM, DISSECTING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; CONSANGUINITY; FATAL OUTCOME; HUMANS; INFANT; INTESTINAL ATRESIA; JEJUNUM; KARYOTYPING; LUNG; MALE; MULTIPLE ORGAN FAILURE; PULMONARY ARTERY;

EID: 0034087838     PISSN: 00039985     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Young D, Shprintzen RJ, Goldberg RB. Cardiac malformations in the velocardio-facial syndrome. Am J Cardiol. 1980;643-648.
2. Coldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet. 1993;45:313-319.
3. Ravnan JB, Chen E, Golabi M, Lebo RV. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet. 1996;66:250-256.
4. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798-804.
5. Watson AJ. Dissecting aneurysm of arteries other than the aorta. J Pathol Bacteriol. 1956;72:439-449.
6. Luchtrath H. Dissecting aneurysm of the pulmonary artery. Virchows Arch A Pathol Anat Histopathol. 1981;391:241-247.
7. Nguyen G-K, Dowling GP. Dissecting aneurysm of the pulmonary trunk. Arch Pathol Lab Med 1989;113:1178-1179.
8. Masucla S, Ishii T, Asuwa N, Ishikawa Y, Kiguchi H, Uchiyama T. Concurrent pulmonary arterial dissection and saccular aneurysm associated with primary pulmonary hypertension. Arch Pathol Lab Med. 1996;120:309-312.
9. Mehraein Y, Wippermann CF, Michael-Behnke I, etal. Microdeletion 22q11 in complex cardiovascular malformations. Hum Genet. 1997;99:433-442.
10. Dickson JAS. Apple peel small bowel: an uncommon variant of duodenal and jejunal atresia. J Pediatr Surg. 1970;5:595-600.
11. Kurahashi H, Tsucla E, Kohama R, et al. Another critical region for deletion of 22q11: a study of 100 patients. Am J Med Genet. 1997;72:180-185.
12. Momma K, Kondo C, Matsuoka R. Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion. J Am Coll Cardiol. 1996;27:198-202.
13. Worthington S, Colley A, Fagan K, Dai K, Lipson AH. Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? J Med Genet. 1997;34:79-82A.