Combined trisomy 9P and Shprintzen syndrome resulting from a paternal t(9;22)

Genetic Counseling

Volumn 12, Issue 2, 2001, Pages 137-143

  Komatsu, H ^a   Kihara, A ^a   Komura, E ^a   Mitsufuji, N ^a   Tsujii, H ^a   Kakita, S ^a   Ikuta, H ^a  

^a KYOTO FIRST RED CROSS HOSPITAL   (Japan)

Author keywords

Adjacent 2 disjunction; Paternal origin; Shprintzen (velocardiofacial) syndrome; Trisomy 9p, 22q11.2 deletion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; DISEASE ASSOCIATION; FEMALE; HUMAN; HYDRONEPHROSIS; INFANT; LARYNX DISORDER; MONOSOMY; PALATE MALFORMATION; PARTIAL TRISOMY 9; RETROGNATHIA; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; SYNDROME; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0034952181     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Partial trisomy 9: Clinical and cytogenetic correlations
2. Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9
3. The trisomy 9p syndrome
4. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review
5. Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of literature
6. DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction
7. Velo-cardio-facial syndrome: A review of 120 patients
8. Factors predisposing to adjacent 2 and 3:1 disjunctions: Study of 161 human reciprocal translocations
9. Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing. A study of 151 human translocation
10. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p
11. Ebstein's anomaly associated with trisomy 9p
12. Adjacent-2 disjunction of a maternal t(9:22) leading to duplication 9pter-q22 and deficiency of 22pter-q11.2
13. Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'unc nouvelle entité morbide
14. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
15. Trisomy 9p, a chromosome aberration with distinct radiologic findings
16. Pierre Robin, micrognathia, and airway obstruction: The dependency of treatment on accurate diagnosis
17. The phenotypic and cytogenetic spectrum of partial trisomy 9