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4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.
J Craniomaxillofac Surg. 2000 Jun; 28(3):165-70.JC

Abstract

Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. Cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful.

Authors+Show Affiliations

Maxillofacial Surgery, Graduate School, Tokyo Medical and Dental University, Yushima, Tokyo, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

10964553

Citation

Kobayashi, J, et al. "4p- Syndrome and 9p Tetrasomy Mosaicism With Cleft Lip and Palate." Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery, vol. 28, no. 3, 2000, pp. 165-70.
Kobayashi J, Kimijima Y, Yamada S, et al. 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate. J Craniomaxillofac Surg. 2000;28(3):165-70.
Kobayashi, J., Kimijima, Y., Yamada, S., Amagasa, T., & Saito-Ohara, F. (2000). 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate. Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery, 28(3), 165-70.
Kobayashi J, et al. 4p- Syndrome and 9p Tetrasomy Mosaicism With Cleft Lip and Palate. J Craniomaxillofac Surg. 2000;28(3):165-70. PubMed PMID: 10964553.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate. AU - Kobayashi,J, AU - Kimijima,Y, AU - Yamada,S, AU - Amagasa,T, AU - Saito-Ohara,F, PY - 2000/8/31/pubmed PY - 2000/10/14/medline PY - 2000/8/31/entrez SP - 165 EP - 70 JF - Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery JO - J Craniomaxillofac Surg VL - 28 IS - 3 N2 - Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. Cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful. SN - 1010-5182 UR - https://www.unboundmedicine.com/medline/citation/10964553/4p__syndrome_and_9p_tetrasomy_mosaicism_with_cleft_lip_and_palate_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1010-5182(00)90126-4 DB - PRIME DP - Unbound Medicine ER -