Total: 4 |
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PMID (PMCID) | ||
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30233713 (6143868) |
OTHER | |
De novo unbalanced translocation t(15;22)(q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature. | ||
Gug C, Huțanu D, Vaida M, Doros G, Popa C, Stroescu R, Furau G, Furau C, Grigorița L, Mozos I. Exp Ther Med. 2018;16(4):3589-3595. |
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The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. | ||
19373080 |
MALE | Child |
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome. | ||
Dallapiccola B, Digilio MC, Zatterale A, Galeone R, Capolino R, Mingarelli R. Clin Dysmorphol. 2009;18(3):135-8. |
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Three patients are reported, including two dizygotic twins born to consanguineous parents, presenting with a disorder characterized by growth retardation, microcephaly, distinct facial features with hypotelorism, with or without epicanthic folds, prominent lips, low set ears, tetralogy of Fallot in two cases, short first metacarpals and thumbs, and hypoplastic radius and ulna in one patient. | ||
2714786 |
MALE | Infant |
Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2. | ||
Lundbech PE, Thogersen T. Hum Genet. 1989;82(1):92-3. |
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He showed developmental retardation, low-set ears, micrognathia, short, neck, abundant skin of the neck, tetralogy of Fallot, bipartite labialike scrotum, clitorislike penis, cryptorchism, and deformities of the hands and feet. | ||
837565 |
OTHER | Infant, Newborn |
A case of double trisomy in a liveborn infant: 48, XXY, "13. | ||
Malhes JB, Moore CM, Gershank JJ. Clin Genet. 1977;11(2):147-50. |
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Ambigouous genitalia, microcephaly, microphthalmia, hyoptelorism, single choanal opening, low-set ears, simian creases, Tetralogy of Fallot, bilateral hydronephrosis, and absence of the left ureter characterized an infant the died 1 hour postpartum with the karyotype 48,XXY,+13. |