Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47, XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brother

1979 ◽  
Vol 24 (2) ◽  
pp. 127-128 ◽  
Author(s):  
I.S. Pope ◽  
H.C. Thuline ◽  
M.M. Aronson ◽  
B. Bozarth ◽  
A.E. Greene ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Chromosome 9 ◽  
Chromosome 3 ◽  
Multiple Congenital Anomalies ◽  
And Inversion

scholarly journals An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

1977 ◽  
Vol 14 (6) ◽  
pp. 455-459 ◽  
Author(s):  
L Wisniewski ◽  
G Purdy ◽  
T Hassold ◽  
C Wilson ◽  
K Bentley ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Chromosome 9 ◽  
Multiple Congenital Anomalies

scholarly journals Tetrasomy 9p Syndrome in a Filipino Infant

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Ebner Bon G. Maceda ◽  
Erena S. Kasahara ◽  
Edsel Allan G. Salonga ◽  
Myrian R. Dela Cruz ◽  
Leniza De Castro-Hamoy
Keyword(s):  
Chromosomal Abnormality ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chromosomal Abnormalities ◽  
Chromosome 9 ◽  
Palpebral Fissure ◽  
Facial Features ◽  
Multiple Congenital Anomalies ◽  
Common Features

Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

2000 ◽  
Vol 16 (3) ◽  
pp. 0176 ◽  
Author(s):  
M. C. Esmer ◽  
G. Rodriguez-Soto ◽  
D. Carrasco-Daza ◽  
M. L. Iracheta ◽  
V. Del Castillo
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
In Utero ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Cloverleaf Skull

Monitoring for new multiple congenital anomalies in the search for human teratogens

1993 ◽  
Vol 46 (4) ◽  
pp. 460-466 ◽  
Author(s):  
Muin J. Khoury ◽  
Lorenzo Botto ◽  
Grady D. Waters ◽  
Pierpaolo Mastroiacovo ◽  
Eduardo Castilla ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Multiple Congenital Anomalies

Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies

1983 ◽  
Vol 64 (1) ◽  
pp. 97-97 ◽  
Author(s):  
P. Franceschini ◽  
M. Cirillo Silengo ◽  
G. Davi ◽  
R. Bianco ◽  
M. Biagioli
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Chromosome 3
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