1976
DOI: 10.1111/j.1399-0004.1976.tb01625.x
|View full text |Cite
|
Sign up to set email alerts
|

Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27)

Abstract: Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6)(q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinoda… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1

Citation Types

0
5
0

Year Published

1978
1978
2015
2015

Publication Types

Select...
9

Relationship

0
9

Authors

Journals

citations
Cited by 23 publications
(5 citation statements)
references
References 3 publications
0
5
0
Order By: Relevance
“…Most of these duplications have arisen from reciprocal translocations. There are also a few interstitial duplications due to insertions or inverted duplications [Chen et al, 1976; Bull et al, 1978; Hulten et al, 1991; Roland et al, 1993]. The regions 6q11 and 6q12 were never seen to be duplicated, and are therefore regarded as triplolethal [Brewer et al, 1999].…”
Section: Introductionmentioning
confidence: 99%
“…Most of these duplications have arisen from reciprocal translocations. There are also a few interstitial duplications due to insertions or inverted duplications [Chen et al, 1976; Bull et al, 1978; Hulten et al, 1991; Roland et al, 1993]. The regions 6q11 and 6q12 were never seen to be duplicated, and are therefore regarded as triplolethal [Brewer et al, 1999].…”
Section: Introductionmentioning
confidence: 99%
“…There is a remarkable similarity among the patients, especially in the facial appearance of the two illustrated cases (Robertson et al 1975 (Fig. 5 ) and Chen et al 1976 ( Fig. 4)).…”
Section: Discussionmentioning
confidence: 75%
“…Partial trisomy 6q has been identified in banded chromosomes in only five patients (Robertson et al 1975, Chen et al 1976, Clark et al 1977. The purpose of this paper is to describe an infant with partial trisomy 6q, whose mother had a balanced translocation involving chromosome 3.…”
mentioning
confidence: 99%
“…Apart from ancient SDs and well‐known recurrent microduplications such as the dup(22)(q11.2), new familial interstitial duplications have been reported in several studies[Voullaire et al, ; Mathijssen et al, ; Eussen et al, ; Kowalczyk et al, ; Leach et al, ; Mrasek et al, ; Kang et al, ] and sometimes associated with a normal phenotype [Kowalczyk et al, ; Mrasek et al, ; Kang et al, ]. With regard to 6q duplications, 13 patients have been reported with duplications encompassing the 6q16 and/or 6q21 regions [Chen et al, ; Pierpont et al, ; Roland et al, ; Pratt et al, ; Zneimer et al, ; Pazooki et al, ; Spreiz et al, ], but only one involving the 6q15q21 cytogenetic band [Spreiz et al, ] (Supplementary Table I). Most of these patients have been reported as displaying intellectual disability (11/13), postnatal growth retardation (9/13) and obesity (7/11).…”
Section: Discussionmentioning
confidence: 99%