The partial 4q monosomy

Sandig, K. R.; Mücke, J.; Trautmann, Udo

doi:10.1007/bf00441212

Cited by 11 publications

(6 citation statements)

References 8 publications

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“…Our patients 1 and 2 demonstrated the unusual stiff extended fifth finger with pointed "hooked" fingernail virtually identical to patients reported by Mitchell et al [1981], Davis et al [1981], Sandig et al [1982], Berger et al [1983], and Chudley et al [1982], who described it as a "ram's horn. "…”

Section: Patient Reviewsupporting

confidence: 84%

“…His motor development is characterized by a clumsy gait and crude pincer grasp. , 1975;Back et al, 1977;Frias et al, 1978;Townes et al, 1979;Davis et al, 1981;Shroff et al, 1981;Yu et al, 1981;Lipson et al, 1982;Young et al, 1981;Berger et al, 1983Golbus et al, 1973Mitchell et al, 1981;Sandig et al, 1982;Chudley et al, 1982; new case (1) q31 Mitchell et al, 1981;Stamberg et al, 1982;Tompkins et al, 1982;Tuchman et al, 1983;Jefferson et al, 1986 (67) 214 (50) 216 (33) Abnormal nasal bridge 17/18 (94) 314 (75) 216 (33) Anteverted nares 61 18 (33) 214 (50) 316 (50…”

Section: Patientmentioning

confidence: 99%

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Interstitial and terminal deletions of the long arm of chromosome 4: Further delineation of phenotypes

et al. 1988

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We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32----qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31----qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.

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Section: Patient Reviewsupporting

confidence: 84%

Section: Patientmentioning

confidence: 99%

Interstitial and terminal deletions of the long arm of chromosome 4: Further delineation of phenotypes

et al. 1988

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“…We are aware of 17 individuals with such deletion reported to date Ferrier and Freund, 1974;Van Kempen, 1975;Back et al, 1977;Frias et al, 1978;Townes et al, 1979;Davis et al, 1981;Mitchell et al, 1981;Yu et al, 1981;Chudley et al, 1982;Lipson et al, 1982;Sandig et al, 1982;Young et al, 1982;Berger et al, 19831. The most prominent manifestations are summarized in Table I.…”

Section: Discussionmentioning

confidence: 94%

“…Many authors Davis et al, 1981;Mitchell et al, 1981;Yu et al, 1981;Lipson et al, 1982;Sandig et al, 1982;Berger et al, 19831 have considered the idea of a recognizable clinical syndrome associated with deM(q31). This report further supports that concept.…”

Section: Introductionmentioning

confidence: 99%

Terminal deletion 4q in a severely retarded boy

Michelena

Campos

1989

Am. J. Med. Genet.

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“…However, until now all publications of 4q deletion investigated with banding do not mention radial absence (Sandig et al 1982). In view of this finding the prebanding 4q deletion in Ockey's patient has been questioned (de Grouchy & Turleau 1977).…”

Section: Discussionmentioning

confidence: 99%