𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Trisomy 9: An additional case with unique manifestations

✍ Scribed by de Michelena, María I. ;Sánchez, Raul ;Muñoz, Pedro ;Cabello, Emilio ;Rojas, Pablo ;de Olazaval, Eduardo

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
321 KB
Volume
43
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mosaic trisomy 9: Two additional cases
Mosaic trisomy 9: Two additional cases
✍ Marleen R. Tropp; Marie Currie 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 490 KB

Two unrelated patients were found to be mosaic for an extra chromosome 9 (46,XX/47,XX,+9). The first patient showed a prominent nose, deep set eyes, carp shaped mouth and complex congenital cardiac anomalies. She died of congestive cardiac failure at the age of 10 days. The second patient, was a 7 1

Atypical manifestations of two cases of
Atypical manifestations of two cases of trisomy 9 syndrome: Rethinking development delay
✍ Saneto, Russell P.; Applegate, Kimberly E.; Frankel, David G. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

Trisomy 9 syndrome is characterized by ''bulbous'' nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous systems. With the exception of one reported case study, all surviving infants have had severe mental impairment. The prospect of sev

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 👁 3 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

Case of partial trisomy 9p and partial t
Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes
✍ Angle, Brad; Yen, Frank; Cole, Cameron W. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 2 views

We report on a female infant with partial trisomy 9p (pter→p13) and partial trisomy 14q (pter→q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic pattern

Trisomy 9p with an isochromosome of 9p
Trisomy 9p with an isochromosome of 9p
✍ Greg Smith; Alice McCaa; Thaddeus E. Kelly 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 247 KB

An 18 1/2-year-old female is described with moderately severe mental retardation, the phenotype of the trisomy 9p syndromy, and an isochromosome for the short arm of a chromosome 9, contained in an unique karyotype, 46,XX,-9,t(7q9q),+ iso 9p.