A neonate with the Pelger-Huet anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12

被引：3

作者：

Christensen, R. D. ^{[1
]}

Yaish, H. M. ^{[2
,3
]}

机构：

[1] Intermt Healthcare, Dept Women & Newborns, Salt Lake City, UT 84403 USA

[2] Univ Utah, Sch Med, Primary Childrens Med Ctr, Salt Lake City, UT USA

[3] Univ Utah, Sch Med, Dept Pediat, Div Hematol Oncol, Salt Lake City, UT USA

来源：

JOURNAL OF PERINATOLOGY | 2012年 / 32卷 / 03期

关键词：

cleft lip and palate; Pelger-Huet; microdeletion; LEFT SHIFT;

D O I：

10.1038/jp.2011.119

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

We observed a neonate with cleft lip and palate, 13 sets of ribs, agenesis of the corpus callosum, slightly small penis, hypoglycemia, and what initially appeared to be a marked leukocyte 'left shift' on complete blood count, but which was actually a Pelger-Huet anomaly. A chromosomal microdeletion was identified at1q41-42.12. Journal of Perinatology (2012) 32, 238-240; doi: 10.1038/jp.2011.119

引用

页码：238 / 240

页数：3

共 12 条

[1]

CDC, 2010, MMWR CTR DIS CONTROL, V59, P10

[2]

CHRISTENSEN RD, 1981, J PEDIATR-US, V98, P101

[3] Reference Ranges for Blood Concentrations of Nucleated Red Blood Cells in Neonates [J].

Christensen, Robert D. ;

Henry, Erick ;

Andres, Robert L. ;

Bennett, Sterling T. .

NEONATOLOGY, 2011, 99 (04) :289-294

[4] FETAL PHALLIC GROWTH AND PENILE STANDARDS FOR NEWBORN MALE INFANTS [J].

FELDMAN, KW ;

SMITH, DW .

JOURNAL OF PEDIATRICS, 1975, 86 (03) :395-398

[5] Interstitial Deletion 1q42 in a Patient With Agenesis of Corpus Callosum: Phenotype-Genotype Comparison to the 1q41q42 Microdeletion Suggests a Contiguous 1q4 Syndrome [J].

Filges, Isabel ;

Roethlisberger, Benno ;

Boesch, Nemya ;

Weber, Peter ;

Wenzel, Friedel ;

Huber, Andreas R. ;

Heinimann, Karl ;

Miny, Peter .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (04) :987-993

[6] Pelger-Huet anomaly in a child with 1q42.3-44 deletion [J].

Kalfa, TA ;

Zimmerman, SA ;

Goodman, BK ;

McDonald, MT ;

Ware, RE .

PEDIATRIC BLOOD & CANCER, 2006, 46 (05) :645-648

[7] DIFFERENTIAL LEUKOCYTE COUNT IN ASSESSMENT AND OUTCOME OF EARLY-ONSET NEONATAL GROUP-B STREPTOCOCCAL DISEASE [J].

MANROE, BL ;

ROSENFELD, CR ;

WEINBERG, AG ;

BROWNE, R .

JOURNAL OF PEDIATRICS, 1977, 91 (04) :632-637

[8] Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome [J].

Mazzeu, J. F. ;

Vianna-Morgante, A. M. ;

Krepischi, A. C. V. ;

Oudakker, A. ;

Rosenberg, C. ;

Szuhai, K. ;

McGill, J. ;

MacCraughan, J. ;

van Bokhoven, H. ;

Brunner, H. G. .

CLINICAL GENETICS, 2010, 77 (04) :404-407

[9] White blood cell left shift in a neonate: a case of mistaken identity [J].

Mohamed, I. S. I. ;

Wynn, R. J. ;

Cominsky, K. ;

Reynolds, A. M. ;

Ryan, R. M. ;

Kumar, V. H. ;

Lakshminrusimha, S. .

JOURNAL OF PERINATOLOGY, 2006, 26 (06) :378-380

[10]

Orkin SH, 2008, NATHAN OSKIS HEMATOL, P1710

← 1 2 →