Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation

Phakomatosis pigmentovascularis: Implica

Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes

✍ Bryan D. Hall; Ronald G. Cadle; Shannon M. Morrill-Cornelius; Carolyn A. Bay 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 311 KB

## Abstract In 1947 the term phakomatosis pigmentovascularis (PPV) was coined to represent the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. Four types of PPV have been recognized with type II (nevus flammeus and Mongolian spots) being the most com

Phakomatosis pigmentovascularis: Implica

Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes

✍ Bryan D. Hall; Ronald G. Cadle; Shannon M. Morrill-Cornelius; Carolyn A. Bay 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 296 KB

## Abstract In 1947 the term phakomatosis pigmentovascularis (PPV) was coined to represent the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. Four types of PPV have been recognized with type II (nevus flammeus and Mongolian spots) being the most com

Sotos syndrome associated with a de novo

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)

✍ Imaizumi, Kiyoshi ;Kimura, Junko ;Matsuo, Mari ;Kurosawa, Kenji ;Masuno, Mitsuo 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB 👁 3 views

## Abstract We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15‐month‐old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:2

De novo apparently balanced reciprocal t

De novo apparently balanced reciprocal translocation between 5q1l.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly

✍ Fukushima, Yoshimitsu ;Ohashi, Hirofumi ;Wakui, Keiko ;Nishimoto, Hiroshi ;Sato, 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB 👁 1 views

Asperger syndrome in a boy with a balanc

Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

✍ Annerén, Göran ;Dahl, Niklas ;Uddenfeldt, Ulrika ;Janols, Lars-Olof 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB 👁 2 views

## Letter to the Editor Asperger Syndrome in a Boy With a Balanced De Novo Translocation: t( 17; 19)(p13.3;pll)

Asplenia syndrome in a child with a bala

Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]

✍ Freeman, Sallie B.; Muralidharan, Kasinathan; Pettay, Dorothy; Blackston, R. Dwa 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 3 views

We present a 6-year-old girl with a balanced 11;20 translocation [46,XX,t(11;20)(q13.1; q13.13)patl, asplenia, pulmonic stenosis, Hirschsprung disease, minor anomalies, and mental retardation. This case represents the second report of an individual with situs abnormalities and a balanced chromosome