1991
DOI: 10.1002/ajmg.1320380415
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Digeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction

Abstract: A term white girl presented with low birth weight, minor anomalies, and congenital heart defects. The infant had microcephaly, upslanting palpebral fissures, prominent nasal bridge, short philtrum, thin upper lip vermilion, down-turned corners of the mouth, receding mandible, and short broad neck. The hands showed proximal placement of the thumbs, bilateral clinodactyly of the index finger, and bilateral transverse crease. Both hands were clenched, with the index finger overlapping the third finger and the fif… Show more

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Cited by 13 publications
(10 citation statements)
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“…At necropsy, an atrial septal defect and accessory spleen were recorded. Since accessory spleen has been reported in association with 9p duplication,9 one could speculate that this child was also unbalanced for the maternal translocation, having the der(13) instead of the der(9) found in the proband. In family 4, a paternal cousin was referred with mental retardation.…”
Section: Resultsmentioning
confidence: 93%
“…At necropsy, an atrial septal defect and accessory spleen were recorded. Since accessory spleen has been reported in association with 9p duplication,9 one could speculate that this child was also unbalanced for the maternal translocation, having the der(13) instead of the der(9) found in the proband. In family 4, a paternal cousin was referred with mental retardation.…”
Section: Resultsmentioning
confidence: 93%
“…The majority of cytogenetically abnormal DGS patients initially reported had unbalanced translocations with monosomy 22pter-.ql 1 . [2][3][4][5][6][7][8][9][10][11] More recently, using high resolution banding techniques, visible interstitial deletions of 22q1 1.2 (del(22)(ql 1.21ql 1.23)) have been identified in approximately 25% of DGS patients. '2 On the basis of the cytogenetic abnormalities, it was hypothesised that the DiGeorge critical region (DGCR) lies within 22q1 1.…”
mentioning
confidence: 99%
“…The ICA may take a medial course even when no pharyngeal pulsations are observed on endoscopic examination (Mitnick et al, 1996). A single carotid trunk originating from the aortic arch was previously reported (El-Fouly et al, 1991).…”
mentioning
confidence: 98%
“…Defects in pulmonary vessel arborization have been seen (Perez and Sullivan, 2002). Hypoplasia of a pulmonary artery has been reported (El-Fouly et al, 1991). Jugular vein anomalies, isolation of the common carotid artery, and circle of Willis anomalies have previously been associated with 22q11DS (Robin and Shprintzen, 2005).…”
mentioning
confidence: 99%