Two patients with ring chromosome 15 syndrome
We report on 2 patients (3½ year‐old‐male and 6‐year‐old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hyperte...
Gespeichert in:
Veröffentlicht in: | American journal of medical genetics 1988-01, Vol.29 (1), p.149-154 |
---|---|
Hauptverfasser: | , , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Zusammenfassung: | We report on 2 patients (3½ year‐old‐male and 6‐year‐old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café‐au‐lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and parental age at the time of birth was 28 and 31 years, respectively. |
---|---|
ISSN: | 0148-7299 1096-8628 |
DOI: | 10.1002/ajmg.1320290119 |