𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3)

✍ Scribed by Henegariu, Octavian; Heerema, Nyla A.; Vance, Gail H.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
217 KB
Volume
68
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a female infant with partial 6q trisomy (46,XX,dir dup(6)(q23.3q25.3)) and phenotypic characteristics of the "duplication 6q syndrome," including intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion-contractures of the wrists, and mild generalized hypertonia. Although clearly belonging to the described "duplication 6q syndrome," her features were milder than those found in the literature. Comparison of the phenotype of this child with other published reports indicates that specific phenotypic components of the duplication 6q syndrome cannot be attributed to duplication of a specific band or bands on 6q. Am.

📜 SIMILAR VOLUMES

Delineation of a duplication map of chro
Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region
✍ Rizzu, P.; Haddad, B. R.; Vallcorba, I.; Alonso, A.; Ferro, M. T.; Garcia-Sagred 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB 👁 2 views

We report on the clinical, cytogenetic, and molecular characterization of a propositus and his mother with a duplication of 3q25-q26, minor anomalies, and mental retardation. The duplication, detected by cytogenetic analysis, was confirmed and delineated by comparative genomic hybridization and fluo

Case of partial trisomy 2q3 with clinica
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome
✍ Seidahmed, M. Zein; Rooney, D.E.; Salih, M.A.M.; Basit, O. Bashir Abdel; Shaheed 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified